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[PMID]: 25730767
[Au] Autor:Izumi K; Nakato R; Zhang Z; Edmondson AC; Noon S; Dulik MC; Rajagopalan R; Venditti CP; Gripp K; Samanich J; Zackai EH; Deardorff MA; Clark D; Allen JL; Dorsett D; Misulovin Z; Komata M; Bando M; Kaur M; Katou Y; Shirahige K; Krantz ID
[Ad] Address:1] Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA. [2] Research Center for Epigenetic Disease, Institute for Molecular and Cellular Biosciences, The University of Tokyo, Tokyo, Japan....
[Ti] Title:Germline gain-of-function mutations in AFF4 cause a developmental syndrome functionally linking the super elongation complex and cohesin.
[So] Source:Nat Genet;47(4):338-44, 2015 Apr.
[Is] ISSN:1546-1718
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:Transcriptional elongation is critical for gene expression regulation during embryogenesis. The super elongation complex (SEC) governs this process by mobilizing paused RNA polymerase II (RNAP2). Using exome sequencing, we discovered missense mutations in AFF4, a core component of the SEC, in three unrelated probands with a new syndrome that phenotypically overlaps Cornelia de Lange syndrome (CdLS) that we have named CHOPS syndrome (C for cognitive impairment and coarse facies, H for heart defects, O for obesity, P for pulmonary involvement and S for short stature and skeletal dysplasia). Transcriptome and chromatin immunoprecipitation sequencing (ChIP-seq) analyses demonstrated similar alterations of genome-wide binding of AFF4, cohesin and RNAP2 in CdLS and CHOPS syndrome. Direct molecular interaction of the SEC, cohesin and RNAP2 was demonstrated. These data support a common molecular pathogenesis for CHOPS syndrome and CdLS caused by disturbance of transcriptional elongation due to alterations in genome-wide binding of AFF4 and cohesin.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1503
[Cu] Class update date: 150404
[Lr] Last revision date:150404
[Js] Journal subset:IM
[St] Status:In-Data-Review
[do] DOI:10.1038/ng.3229

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[PMID]: 25791400
[Au] Autor:van Hinsbergen DJ; Abels HA; Bosch W; Boekhout F; Kitchka A; Hamers M; van der Meer DG; Geluk M; Stephenson RA
[Ad] Address:Department of Earth Sciences, University of Utrecht, Budapestlaan 4, 3584 CD Utrecht, the Netherlands....
[Ti] Title:Sedimentary geology of the middle Carboniferous of the Donbas region (Dniepr-Donets basin, Ukraine).
[So] Source:Sci Rep;5:9099, 2015.
[Is] ISSN:2045-2322
[Cp] Country of publication:England
[La] Language:eng
[Ab] Abstract:The Paleozoic Dniepr-Donets Basin in Belarus, Ukraine, and Russia forms a major hydrocarbon province. Although well- and seismic data have established a 20 km thick stratigraphy, field-studies of its sediments are scarce. The inverted Donbas segment (Ukraine) exposes the middle Carboniferous part of the basin's stratigraphy. Here, we provide detailed sedimentological data from 13 sections that cover 1.5 of the total of 5 km of the Bashkirian and Moscovian stages and assess the paleoenvironment and paleo-current directions. Middle Carboniferous deposition occurred in a shelf environment, with coal deposition, subordinate fluvial facies, and abundant lower and middle shoreface facies, comprising an intercalated package of potential source and reservoir rocks. Sedimentary facies indicate a paleodepth range from below storm wave base to near-coastal swamp environments. Sedimentation and subsidence were hence in pace, with subtle facies changes likely representing relative sea-level changes. Paleocurrent directions are remarkably consistently southeastward in time and space in the different sedimentary facies across the Donbas Fold Belt, illustrating a dominant sedimentary infill along the basin axis, with little basin margin influence. This suggests that the middle Carboniferous stratigraphy of the Dniepr-Donets basin to the northwest probably contains significant amounts of fluvial sandstones, important for assessing hydrocarbon reservoir potential.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1503
[Cu] Class update date: 150401
[Lr] Last revision date:150401
[Js] Journal subset:IM
[St] Status:In-Data-Review
[do] DOI:10.1038/srep09099

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[PMID]: 25434003
[Au] Autor:Wieczorek D; Newman WG; Wieland T; Berulava T; Kaffe M; Falkenstein D; Beetz C; Graf E; Schwarzmayr T; Douzgou S; Clayton-Smith J; Daly SB; Williams SG; Bhaskar SS; Urquhart JE; Anderson B; O'Sullivan J; Boute O; Gundlach J; Czeschik JC; van Essen AJ; Hazan F; Park S; Hing A; Kuechler A; Lohmann DR; Ludwig KU; Mangold E; Steenpaß L; Zeschnigk M; Lemke JR; Lourenco CM; Hehr U; Prott EC; Waldenberger M; Böhmer AC; Horsthemke B; O'Keefe RT; Meitinger T; Burn J; Lüdecke HJ; Strom TM
[Ad] Address:Institut für Humangenetik, Universitätsklinikum Essen, Universität Duisburg-Essen, 45122 Essen, Germany. Electronic address: dagmar.wieczorek@uni-due.de....
[Ti] Title:Compound heterozygosity of low-frequency promoter deletions and rare loss-of-function mutations in TXNL4A causes Burn-McKeown syndrome.
[So] Source:Am J Hum Genet;95(6):698-707, 2014 Dec 4.
[Is] ISSN:1537-6605
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:Mutations in components of the major spliceosome have been described in disorders with craniofacial anomalies, e.g., Nager syndrome and mandibulofacial dysostosis type Guion-Almeida. The U5 spliceosomal complex of eight highly conserved proteins is critical for pre-mRNA splicing. We identified biallelic mutations in TXNL4A, a member of this complex, in individuals with Burn-McKeown syndrome (BMKS). This rare condition is characterized by bilateral choanal atresia, hearing loss, cleft lip and/or palate, and other craniofacial dysmorphisms. Mutations were found in 9 of 11 affected families. In 8 families, affected individuals carried a rare loss-of-function mutation (nonsense, frameshift, or microdeletion) on one allele and a low-frequency 34 bp deletion (allele frequency 0.76%) in the core promoter region on the other allele. In a single highly consanguineous family, formerly diagnosed as oculo-oto-facial dysplasia, the four affected individuals were homozygous for a 34 bp promoter deletion, which differed from the promoter deletion in the other families. Reporter gene and in vivo assays showed that the promoter deletions led to reduced expression of TXNL4A. Depletion of TXNL4A (Dib1) in yeast demonstrated reduced assembly of the tri-snRNP complex. Our results indicate that BMKS is an autosomal-recessive condition, which is frequently caused by compound heterozygosity of low-frequency promoter deletions in combination with very rare loss-of-function mutations.
[Mh] MeSH terms primary: Choanal Atresia/genetics
Deafness/congenital
Gene Deletion
Heart Defects, Congenital/genetics
Promoter Regions, Genetic/genetics
Ribonucleoprotein, U5 Small Nuclear/genetics
Spliceosomes/genetics
[Mh] MeSH terms secundary: Alleles
Child, Preschool
Choanal Atresia/diagnosis
Deafness/diagnosis
Deafness/genetics
Exosomes/genetics
Facies
Female
Gene Expression Profiling
Gene Frequency
Genes, Reporter
Heart Defects, Congenital/diagnosis
Heterozygote
Homozygote
Humans
Male
Mutation
Oligonucleotide Array Sequence Analysis
Pedigree
Phenotype
Ribonucleoprotein, U5 Small Nuclear/metabolism
Sequence Analysis, DNA
Spliceosomes/metabolism
[Pt] Publication type:JOURNAL ARTICLE; RESEARCH SUPPORT, NON-U.S. GOV'T
[Nm] Name of substance:0 (Ribonucleoprotein, U5 Small Nuclear); 0 (TXNL4A protein, human)
[Em] Entry month:1502
[Cu] Class update date: 150401
[Lr] Last revision date:150401
[Js] Journal subset:IM
[Da] Date of entry for processing:141206
[St] Status:MEDLINE

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[PMID]: 25439729
[Au] Autor:Hussain MS; Battaglia A; Szczepanski S; Kaygusuz E; Toliat MR; Sakakibara S; Altmüller J; Thiele H; Nürnberg G; Moosa S; Yigit G; Beleggia F; Tinschert S; Clayton-Smith J; Vasudevan P; Urquhart JE; Donnai D; Fryer A; Percin F; Brancati F; Dobbie A; Smigiel R; Gillessen-Kaesbach G; Wollnik B; Noegel AA; Newman WG; Nürnberg P
[Ad] Address:Cologne Center for Genomics, University of Cologne, 50931 Cologne, Germany; Institute of Biochemistry I, Medical Faculty, University of Cologne, 50931 Cologne, Germany; Center for Molecular Medicine Cologne, University of Cologne, 50931 Cologne, Germany....
[Ti] Title:Mutations in CKAP2L, the human homolog of the mouse Radmis gene, cause Filippi syndrome.
[So] Source:Am J Hum Genet;95(5):622-32, 2014 Nov 6.
[Is] ISSN:1537-6605
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:Filippi syndrome is a rare, presumably autosomal-recessive disorder characterized by microcephaly, pre- and postnatal growth failure, syndactyly, and distinctive facial features, including a broad nasal bridge and underdeveloped alae nasi. Some affected individuals have intellectual disability, seizures, undescended testicles in males, and teeth and hair abnormalities. We performed homozygosity mapping and whole-exome sequencing in a Sardinian family with two affected children and identified a homozygous frameshift mutation, c.571dupA (p.Ile191Asnfs(∗)6), in CKAP2L, encoding the protein cytoskeleton-associated protein 2-like (CKAP2L). The function of this protein was unknown until it was rediscovered in mice as Radmis (radial fiber and mitotic spindle) and shown to play a pivotal role in cell division of neural progenitors. Sanger sequencing of CKAP2L in a further eight unrelated individuals with clinical features consistent with Filippi syndrome revealed biallelic mutations in four subjects. In contrast to wild-type lymphoblastoid cell lines (LCLs), dividing LCLs established from the individuals homozygous for the c.571dupA mutation did not show CKAP2L at the spindle poles. Furthermore, in cells from the affected individuals, we observed an increase in the number of disorganized spindle microtubules owing to multipolar configurations and defects in chromosome segregation. The observed cellular phenotypes are in keeping with data from in vitro and in vivo knockdown studies performed in human cells and mice, respectively. Our findings show that loss-of-function mutations in CKAP2L are a major cause of Filippi syndrome.
[Mh] MeSH terms primary: Cytoskeletal Proteins/genetics
Growth Disorders/genetics
Intellectual Disability/genetics
Microcephaly/genetics
Syndactyly/genetics
[Mh] MeSH terms secundary: Animals
Base Sequence
Cytogenetic Analysis
Facies
Frameshift Mutation/genetics
Gene Components
Genes, Recessive/genetics
Growth Disorders/pathology
Humans
Intellectual Disability/pathology
Italy
Male
Mice
Microcephaly/pathology
Microscopy, Confocal
Molecular Sequence Data
Sequence Analysis, DNA
Syndactyly/pathology
[Pt] Publication type:CASE REPORTS; JOURNAL ARTICLE; RESEARCH SUPPORT, NON-U.S. GOV'T
[Nm] Name of substance:0 (CKAP2 protein, human); 0 (Cytoskeletal Proteins)
[Em] Entry month:1501
[Cu] Class update date: 150401
[Lr] Last revision date:150401
[Js] Journal subset:IM
[Da] Date of entry for processing:141202
[St] Status:MEDLINE

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[PMID]: 25180280
[Au] Autor:Pierpont ME; Magoulas PL; Adi S; Kavamura MI; Neri G; Noonan J; Pierpont EI; Reinker K; Roberts AE; Shankar S; Sullivan J; Wolford M; Conger B; Santa Cruz M; Rauen KA
[Ad] Address:Division of Genetics and Metabolism, Department of Pediatrics and Ophthalmology, and Children's Hospitals and Clinics of Minnesota, Saint Paul, Minnesota; pierp001@umn.edu....
[Ti] Title:Cardio-facio-cutaneous syndrome: clinical features, diagnosis, and management guidelines.
[So] Source:Pediatrics;134(4):e1149-62, 2014 Oct.
[Is] ISSN:1098-4275
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:Cardio-facio-cutaneous syndrome (CFC) is one of the RASopathies that bears many clinical features in common with the other syndromes in this group, most notably Noonan syndrome and Costello syndrome. CFC is genetically heterogeneous and caused by gene mutations in the Ras/mitogen-activated protein kinase pathway. The major features of CFC include characteristic craniofacial dysmorphology, congenital heart disease, dermatologic abnormalities, growth retardation, and intellectual disability. It is essential that this condition be differentiated from other RASopathies, as a correct diagnosis is important for appropriate medical management and determining recurrence risk. Children and adults with CFC require multidisciplinary care from specialists, and the need for comprehensive management has been apparent to families and health care professionals caring for affected individuals. To address this need, CFC International, a nonprofit family support organization that provides a forum for information, support, and facilitation of research in basic medical and social issues affecting individuals with CFC, organized a consensus conference. Experts in multiple medical specialties provided clinical management guidelines for pediatricians and other care providers. These guidelines will assist in an accurate diagnosis of individuals with CFC, provide best practice recommendations, and facilitate long-term medical care.
[Mh] MeSH terms primary: Disease Management
Ectodermal Dysplasia/diagnosis
Ectodermal Dysplasia/therapy
Failure to Thrive/diagnosis
Failure to Thrive/therapy
Heart Defects, Congenital/diagnosis
Heart Defects, Congenital/therapy
Practice Guidelines as Topic/standards
[Mh] MeSH terms secundary: Diagnosis, Differential
Ectodermal Dysplasia/genetics
Facies
Failure to Thrive/genetics
Genetic Testing/methods
Heart Defects, Congenital/genetics
Humans
[Pt] Publication type:JOURNAL ARTICLE; RESEARCH SUPPORT, N.I.H., EXTRAMURAL; RESEARCH SUPPORT, NON-U.S. GOV'T; REVIEW
[Em] Entry month:1502
[Cu] Class update date: 150401
[Lr] Last revision date:150401
[Js] Journal subset:AIM; IM
[Da] Date of entry for processing:141002
[St] Status:MEDLINE
[do] DOI:10.1542/peds.2013-3189

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[PMID]: 24794322
[Au] Autor:Ng R; Järvinen A; Bellugi U
[Ad] Address:Laboratory for Cognitive Neuroscience, the Salk Institute for Biological Studies, 10010 North Torrey Pines Road, La Jolla, CA 92037-1002, USA; University of Minnesota, Twin Cities, Institute of Child Development, 51 East River Road, Minneapolis, MN 55455, USA.
[Ti] Title:Toward a deeper characterization of the social phenotype of Williams syndrome: The association between personality and social drive.
[So] Source:Res Dev Disabil;35(8):1838-49, 2014 Aug.
[Is] ISSN:1873-3379
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:Previous research has robustly established a Williams syndrome (WS) specific personality profile, predominantly characterized a gregarious, people-oriented, and tense predisposition. Extending this work, the aims of the current, cross-sectional study were two-fold: (1) to elucidate the stability of personality characteristics in individuals with WS and typically developing (TD) comparisons across development, and (2) to explore the personality attributes that may be related to the respective profiles of social functioning characterizing the two groups, which is currently poorly understood. The sample comprised of participants with WS and TD matched on chronological age. The test battery included the Multidimensional Personality Questionnaire (MPQ) and the Salk Institute Sociability Questionnaire (SISQ), an index of real-life social behavior. The main results showed that compared to the TD individuals, the WS group were consistently rated higher in Social Closeness, and this trait remained stable across development. Interpersonal behaviors were best predicted by Social Closeness in WS and by Social Potency in TD. Regression analysis highlighted that while a central motive underlying the increased drive toward social interaction in individuals with WS pertains to a desire to form affectionate relationships, TD individuals by contrast are motivated by a desire to exert social influence over others (leadership, social-dominance) and Well-Being (positive emotional disposition). In conclusion, these findings provide novel insight into social motivational factors underpinning the WS social behavior in real life, and contribute toward a deeper characterization of the WS affiliative drive. We suggest potential areas for behavioral intervention targeting improved social adjustment in individuals with WS.
[Mh] MeSH terms primary: Adaptation, Psychological
Motivation
Personality
Social Skills
Williams Syndrome/psychology
[Mh] MeSH terms secundary: Adolescent
Adolescent Development
Adult
Child
Child Development
Child, Preschool
Female
Humans
Intelligence
Linear Models
Male
Middle Aged
Predictive Value of Tests
Young Adult
[Pt] Publication type:JOURNAL ARTICLE; RESEARCH SUPPORT, N.I.H., EXTRAMURAL; RESEARCH SUPPORT, NON-U.S. GOV'T; RESEARCH SUPPORT, U.S. GOV'T, NON-P.H.S.
[Em] Entry month:1501
[Cu] Class update date: 150402
[Lr] Last revision date:150402
[Js] Journal subset:IM
[Da] Date of entry for processing:140530
[St] Status:MEDLINE

  7 / 5537 MEDLINE  
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[PMID]: 23386738
[Au] Autor:Lense MD; Gordon RL; Key AP; Dykens EM
[Ad] Address:Vanderbilt University, Peabody Box#40, 230 Appleton Place, Nashville, TN 37203, USA. Miriam.lense@vanderbilt.edu.
[Ti] Title:Neural correlates of cross-modal affective priming by music in Williams syndrome.
[So] Source:Soc Cogn Affect Neurosci;9(4):529-37, 2014 Apr.
[Is] ISSN:1749-5024
[Cp] Country of publication:England
[La] Language:eng
[Ab] Abstract:Emotional connection is the main reason people engage with music, and the emotional features of music can influence processing in other domains. Williams syndrome (WS) is a neurodevelopmental genetic disorder where musicality and sociability are prominent aspects of the phenotype. This study examined oscillatory brain activity during a musical affective priming paradigm. Participants with WS and age-matched typically developing controls heard brief emotional musical excerpts or emotionally neutral sounds and then reported the emotional valence (happy/sad) of subsequently presented faces. Participants with WS demonstrated greater evoked fronto-central alpha activity to the happy vs sad musical excerpts. The size of these alpha effects correlated with parent-reported emotional reactivity to music. Although participant groups did not differ in accuracy of identifying facial emotions, reaction time data revealed a music priming effect only in persons with WS, who responded faster when the face matched the emotional valence of the preceding musical excerpt vs when the valence differed. Matching emotional valence was also associated with greater evoked gamma activity thought to reflect cross-modal integration. This effect was not present in controls. The results suggest a specific connection between music and socioemotional processing and have implications for clinical and educational approaches for WS.
[Mh] MeSH terms primary: Affect/physiology
Brain Mapping
Brain Waves/physiology
Brain/physiopathology
Music
Williams Syndrome/pathology
[Mh] MeSH terms secundary: Acoustic Stimulation
Adult
Analysis of Variance
Auditory Perception/physiology
Case-Control Studies
Electroencephalography
Female
Fourier Analysis
Humans
Male
Photic Stimulation
Young Adult
[Pt] Publication type:JOURNAL ARTICLE; RESEARCH SUPPORT, N.I.H., EXTRAMURAL; RESEARCH SUPPORT, NON-U.S. GOV'T
[Em] Entry month:1412
[Cu] Class update date: 150401
[Lr] Last revision date:150401
[Js] Journal subset:IM
[Da] Date of entry for processing:140417
[St] Status:MEDLINE
[do] DOI:10.1093/scan/nst017

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[PMID]: 24891046
[Au] Autor:Filges I; Sparagana S; Sargent M; Selby K; Schlade-Bartusiak K; Lueder GT; Robichaux-Viehoever A; Schlaggar BL; Shimony JS; Shinawi M
[Ad] Address:Department of Medical Genetics, BC Children's and Women's Hospital, Child and Family Research Institute, University of British Columbia, Vancouver, Canada; Division of Medical Genetics, Department of Biomedicine, University Hospitals Basel, Basel, Switzerland.
[Ti] Title:Brain MRI abnormalities and spectrum of neurological and clinical findings in three patients with proximal 16p11.2 microduplication.
[So] Source:Am J Med Genet A;164A(8):2003-12, 2014 Aug.
[Is] ISSN:1552-4833
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:The phenotype of recurrent ∼600 kb microdeletion and microduplication on proximal 16p11.2 is characterized by a spectrum of neurodevelopmental impairments including developmental delay and intellectual disability, epilepsy, autism and psychiatric disorders which are all subject to incomplete penetrance and variable expressivity. A variety of brain MRI abnormalities were reported in patients with 16p11.2 rearrangements, but no systematic correlation has been studied among patients with similar brain anomalies, their neurodevelopmental and clinical phenotypes. We present three patients with the proximal 16p11.2 microduplication exhibiting significant developmental delay, anxiety disorder and other variable clinical features. Our patients have abnormal brain MRI findings of cerebral T2 hyperintense foci (3/3) and ventriculomegaly (2/3). The neuroradiological or neurological findings in two cases prompted an extensive diagnostic work-up. One patient has exhibited neurological regression and progressive vision impairment and was diagnosed with juvenile neuronal ceroid-lipofuscinosis. We compare the clinical course and phenotype of these patients in regard to the clinical significance of the cerebral lesions and the need for MRI surveillance. We conclude that in all three patients the lesions were not progressive, did not show any sign of malignant transformation and could not be correlated to specific clinical features. We discuss potential etiologic mechanisms that may include overexpression of genes within the duplicated region involved in control of cell proliferation and complex molecular mechanisms such as the MAPK/ERK pathway. Systematic studies in larger cohorts are needed to confirm our observation and to establish the prevalence and clinical significance of these neuroanatomical abnormalities in patients with 16p11.2 duplications.
[Mh] MeSH terms primary: Brain/pathology
Chromosome Duplication
Chromosomes, Human, Pair 16
Developmental Disabilities/diagnosis
Developmental Disabilities/genetics
Magnetic Resonance Imaging
Phenotype
[Mh] MeSH terms secundary: Adolescent
Child
Comparative Genomic Hybridization
Facies
Female
Humans
In Situ Hybridization, Fluorescence
Male
Polymorphism, Single Nucleotide
[Pt] Publication type:CASE REPORTS; JOURNAL ARTICLE; RESEARCH SUPPORT, NON-U.S. GOV'T; RESEARCH SUPPORT, U.S. GOV'T, NON-P.H.S.
[Em] Entry month:1503
[Js] Journal subset:IM
[Da] Date of entry for processing:140721
[St] Status:MEDLINE
[do] DOI:10.1002/ajmg.a.36605

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[PMID]: 24844942
[Au] Autor:Zarate YA; Lepard T; Sellars E; Kaylor JA; Alfaro MP; Sailey C; Schaefer GB; Collins RT
[Ad] Address:Division of Genetics, Arkansas Children's Hospital, Little Rock, Arkansas.
[Ti] Title:Cardiovascular and genitourinary anomalies in patients with duplications within the Williams syndrome critical region: phenotypic expansion and review of the literature.
[So] Source:Am J Med Genet A;164A(8):1998-2002, 2014 Aug.
[Is] ISSN:1552-4833
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:Williams syndrome results from a microdeletion of approximately 1.5 Mb of chromosome 7q11.23. Several patients have been reported with the reciprocal microduplication in association with a variety of phenotypic features including cognitive impairment and typical facial features, though only a few have had birth defects. We report on three probands with duplications within 7q11.23 of variable sizes; two with cardiovascular involvement including aortic dilation and the other with unilateral renal and gonadal agenesis. We offer a comparison with previously reported cases of duplications of 7q11.23. In light of the present cases, we recommend undertaking echocardiographic and renal ultrasound evaluation of patients with documented 7q11.23 duplications. Further, this cytogenetic abnormality should be part of the differential diagnosis for patients with aortic dilation, as well as those with unilateral renal and gonadal agenesis.
[Mh] MeSH terms primary: Cardiovascular Abnormalities/genetics
Chromosome Duplication
Chromosomes, Human, Pair 7
Phenotype
Urogenital Abnormalities/genetics
Williams Syndrome/genetics
[Mh] MeSH terms secundary: Cardiovascular Abnormalities/diagnosis
Child, Preschool
Chromosome Mapping
Comparative Genomic Hybridization
Facies
Female
Humans
In Situ Hybridization, Fluorescence
Male
Urogenital Abnormalities/diagnosis
Young Adult
[Pt] Publication type:CASE REPORTS; JOURNAL ARTICLE; REVIEW
[Em] Entry month:1503
[Js] Journal subset:IM
[Da] Date of entry for processing:140721
[St] Status:MEDLINE
[do] DOI:10.1002/ajmg.a.36601

  10 / 5537 MEDLINE  
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[PMID]: 24819041
[Au] Autor:Novara F; Stanzial F; Rossi E; Benedicenti F; Inzana F; Di Gregorio E; Brusco A; Graakjaer J; Fagerberg C; Belligni E; Silengo M; Zuffardi O; Ciccone R
[Ad] Address:Department of Molecular Medicine, University of Pavia, Pavia, Italy.
[Ti] Title:Defining the phenotype associated with microduplication reciprocal to Sotos syndrome microdeletion.
[So] Source:Am J Med Genet A;164A(8):2084-90, 2014 Aug.
[Is] ISSN:1552-4833
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:NSD1 point mutations, submicroscopic deletions and intragenic deletions are the major cause of Sotos syndrome, characterized by pre-postnatal generalized overgrowth with advanced bone age, learning disability, seizures, distinctive facial phenotype. Reverse clinical phenotype due to 5q35 microduplication encompassing NSD1 gene has been reported so far in 27 cases presenting with delayed bone age, microcephaly, failure to thrive and seizures in some cases, further supporting a gene dosage effect of NSD1 on growth regulation and neurological functions. Here we depict the clinical presentation of three new cases with 5q35 microduplication outlining a novel syndrome characterized by microcephaly, short stature, developmental delay and in some cases delayed bone maturation, without any typical facial or osseous anomalies.
[Mh] MeSH terms primary: Chromosome Deletion
Chromosome Duplication
Genetic Association Studies
Phenotype
Sotos Syndrome/diagnosis
Sotos Syndrome/genetics
[Mh] MeSH terms secundary: Adolescent
Child, Preschool
Chromosomes, Human, Pair 5
Comparative Genomic Hybridization
Facies
Female
Humans
In Situ Hybridization, Fluorescence
Male
Middle Aged
Segmental Duplications, Genomic
[Pt] Publication type:CASE REPORTS; JOURNAL ARTICLE
[Em] Entry month:1503
[Js] Journal subset:IM
[Da] Date of entry for processing:140721
[St] Status:MEDLINE
[do] DOI:10.1002/ajmg.a.36591


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