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[PMID]: 25029575
[Au] Autor:Damasceno ML; Cristante AF; Marcon RM; de Barros Filho TE
[Ad] Address:Department of Orthopaedics and Traumatology, Spine Surgery Division, Hospital das Clínicas, Faculdade de Medicina, Universidade de São Paulo (IOT-HCFMUSP), São Paulo, SP, Brazil....
[Ti] Title:Prevalence of scoliosis in Williams-Beuren syndrome patients treated at a regional reference center.
[So] Source:Clinics (Sao Paulo);69(7):452-6, 2014 Jul.
[Is] ISSN:1980-5322
[Cp] Country of publication:Brazil
[La] Language:eng
[Ab] Abstract:OBJECTIVE: This study assessed the prevalence of scoliosis and the patterns of scoliotic curves in patients with Williams-Beuren syndrome. Williams-Beuren syndrome is caused by a chromosome 7q11.23 deletion in a region containing 28 genes, with the gene encoding elastin situated approximately at the midpoint of the deletion. Mutation of the elastin gene leads to phenotypic changes in patients, including neurodevelopmental impairment of varying degrees, characteristic facies, cardiovascular abnormalities, hypercalcemia, urological dysfunctions, and bone and joint dysfunctions. METHODS: A total of 41 patients diagnosed with Williams-Beuren syndrome, who were followed up at the genetics ambulatory center of a large referral hospital, were included in the study. There were 25 male subjects. The patients were examined and submitted to radiographic investigation for Cobb angle calculation. RESULTS: It was observed that 14 patients had scoliosis; of these 14 patients, 10 were male. The pattern of deformity in younger patients was that of flexible and simple curves, although adults presented with double and triple curves. Statistical analysis showed no relationships between scoliosis and age or sex. CONCLUSION: This study revealed a prevalence of scoliosis in patients with Williams-Beuren syndrome of 34.1%; however, age and sex were not significantly associated with scoliosis or with the severity of the curves.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1407
[Js] Journal subset:IM
[St] Status:In-Data-Review

  2 / 5259 MEDLINE  
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[PMID]: 24300291
[Au] Autor:Hartill VL; Pendlebury M; Hobson E
[Ad] Address:aDepartment of Clinical Genetics, Chapel Allerton Hospital bYorkshire Cytogenetics Laboratory, St James' Hospital, Leeds, UK.
[Ti] Title:Mowat-Wilson syndrome associated with craniosynostosis.
[So] Source:Clin Dysmorphol;23(1):16-9, 2014 Jan.
[Is] ISSN:1473-5717
[Cp] Country of publication:England
[La] Language:eng
[Mh] MeSH terms primary: Craniosynostoses/genetics
Developmental Disabilities/genetics
Hirschsprung Disease/genetics
Homeodomain Proteins/genetics
Intellectual Disability/genetics
Microcephaly/genetics
Repressor Proteins/genetics
[Mh] MeSH terms secundary: Craniosynostoses/complications
Craniosynostoses/pathology
Developmental Disabilities/pathology
Facies
Female
Hirschsprung Disease/complications
Hirschsprung Disease/pathology
Humans
In Situ Hybridization, Fluorescence
Infant, Newborn
Intellectual Disability/complications
Intellectual Disability/pathology
Karyotype
Microcephaly/complications
Microcephaly/pathology
[Pt] Publication type:CASE REPORTS; JOURNAL ARTICLE
[Nm] Name of substance:0 (Homeodomain Proteins); 0 (Repressor Proteins); 0 (ZEB2 protein, human)
[Em] Entry month:1407
[Js] Journal subset:IM
[Da] Date of entry for processing:131204
[St] Status:MEDLINE
[do] DOI:10.1097/MCD.0000000000000016

  3 / 5259 MEDLINE  
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[PMID]: 24300288
[Au] Autor:Seven M; Koparir E; Gezdirici A; Aydin H; Skladny H; Fenercioglu E; Güven G; Karatas ÖF; Koparir A; Özen M; Ulucan H
[Ad] Address:aDepartment of Medical Genetics, Cerrahpasa Medical School, Istanbul University bDepartment of Medical Genetics, Zeynep Kamil Women and Children Diseases Education and Research Hospital, Istanbul, Turkey cCentre for Human Genetics (Zentrum für Humangenetik, ZHMA), Mannheim, Germany.
[Ti] Title:A novel frameshift mutation and infrequent clinical findings in two cases with Dyggve-Melchior-Clausen syndrome.
[So] Source:Clin Dysmorphol;23(1):1-7, 2014 Jan.
[Is] ISSN:1473-5717
[Cp] Country of publication:England
[La] Language:eng
[Ab] Abstract:Dyggve-Melchior-Clausen syndrome (DMC) (MIM #223800) is a rare autosomal-recessive type of skeletal dysplasia accompanied by variable degrees of intellectual disability (ID). It is characterized by progressive spondyloepimetaphyseal dysplasia leading to disproportionate short stature, microcephaly, and coarse facies. The radiographic appearance of generalized platyspondyly with double-humped end plates and the lace-like appearance of iliac crests are pathognomonic in this syndrome. The disorder results from mutations in the dymeclin (DYM) mapped to the 18q12-12.1 chromosomal region. Here, we report two cases with DMC: one with disproportionate short stature, developmental delay, and severe ID with a novel frameshift mutation (c.1028_1056del29) leading to a premature stop codon, and the second patient with classical clinical and radiological features of DMC with mild ID and rectal prolapse, which is very rare. The clinical diagnosis was confirmed with molecular analysis of DYM with a known mutation at c.580C>T (p.R194X). The parents and sibling of the second patient were heterozygous carriers with mild skeletal changes and short stature.
[Mh] MeSH terms primary: Developmental Disabilities/genetics
Dwarfism/genetics
Genetic Diseases, X-Linked/genetics
Intellectual Disability/genetics
Osteochondrodysplasias/congenital
Proteins/genetics
[Mh] MeSH terms secundary: Child
Child, Preschool
Codon, Nonsense/genetics
Developmental Disabilities/pathology
Dwarfism/pathology
Female
Frameshift Mutation
Genetic Diseases, X-Linked/pathology
Humans
Infant
Intellectual Disability/pathology
Microcephaly/complications
Microcephaly/genetics
Microcephaly/pathology
Osteochondrodysplasias/genetics
Osteochondrodysplasias/pathology
[Pt] Publication type:CASE REPORTS; JOURNAL ARTICLE
[Nm] Name of substance:0 (Codon, Nonsense); 0 (DYM protein, human); 0 (Proteins)
[Em] Entry month:1407
[Js] Journal subset:IM
[Da] Date of entry for processing:131204
[St] Status:MEDLINE
[do] DOI:10.1097/MCD.0000000000000020

  4 / 5259 MEDLINE  
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[PMID]: 24263623
[Au] Autor:Tanteles GA; Christophidou-Anastasiadou V
[Ad] Address:Clinical Genetics Department, Makarios Medical Centre & The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus.
[Ti] Title:Ocular phenotype of Mowat-Wilson syndrome in the first reported Cypriot patients: an under-recognized association.
[So] Source:Clin Dysmorphol;23(1):20-3, 2014 Jan.
[Is] ISSN:1473-5717
[Cp] Country of publication:England
[La] Language:eng
[Mh] MeSH terms primary: Chromosome Deletion
Hirschsprung Disease/genetics
Hirschsprung Disease/pathology
Intellectual Disability/genetics
Intellectual Disability/pathology
Microcephaly/genetics
Microcephaly/pathology
[Mh] MeSH terms secundary: Child
Chromosomes, Human, Pair 16/genetics
Facies
Hirschsprung Disease/complications
Humans
Infant, Newborn
Intellectual Disability/complications
Karyotype
Male
Microcephaly/complications
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1407
[Js] Journal subset:IM
[Da] Date of entry for processing:131204
[St] Status:MEDLINE
[do] DOI:10.1097/MCD.0000000000000013

  5 / 5259 MEDLINE  
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[PMID]: 23878096
[Au] Autor:Shuvarikov A; Campbell IM; Dittwald P; Neill NJ; Bialer MG; Moore C; Wheeler PG; Wallace SE; Hannibal MC; Murray MF; Giovanni MA; Terespolsky D; Sodhi S; Cassina M; Viskochil D; Moghaddam B; Herman K; Brown CW; Beck CR; Gambin A; Cheung SW; Patel A; Lamb AN; Shaffer LG; Ellison JW; Ravnan JB; Stankiewicz P; Rosenfeld JA
[Ad] Address:Signature Genomic Laboratories, PerkinElmer, Inc, Spokane, Washington.
[Ti] Title:Recurrent HERV-H-mediated 3q13.2-q13.31 deletions cause a syndrome of hypotonia and motor, language, and cognitive delays.
[So] Source:Hum Mutat;34(10):1415-23, 2013 Oct.
[Is] ISSN:1098-1004
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:We describe the molecular and clinical characterization of nine individuals with recurrent, 3.4-Mb, de novo deletions of 3q13.2-q13.31 detected by chromosomal microarray analysis. All individuals have hypotonia and language and motor delays; they variably express mild to moderate cognitive delays (8/9), abnormal behavior (7/9), and autism spectrum disorders (3/9). Common facial features include downslanting palpebral fissures with epicanthal folds, a slightly bulbous nose, and relative macrocephaly. Twenty-eight genes map to the deleted region, including four strong candidate genes, DRD3, ZBTB20, GAP43, and BOC, with important roles in neural and/or muscular development. Analysis of the breakpoint regions based on array data revealed directly oriented human endogenous retrovirus (HERV-H) elements of ~5 kb in size and of >95% DNA sequence identity flanking the deletion. Subsequent DNA sequencing revealed different deletion breakpoints and suggested nonallelic homologous recombination (NAHR) between HERV-H elements as a mechanism of deletion formation, analogous to HERV-I-flanked and NAHR-mediated AZFa deletions. We propose that similar HERV elements may also mediate other recurrent deletion and duplication events on a genome-wide scale. Observation of rare recurrent chromosomal events such as these deletions helps to further the understanding of mechanisms behind naturally occurring variation in the human genome and its contribution to genetic disease.
[Mh] MeSH terms primary: Chromosome Deletion
Chromosomes, Human, Pair 3/genetics
Cognition Disorders/genetics
Developmental Disabilities/genetics
Endogenous Retroviruses/genetics
Muscle Hypotonia/genetics
[Mh] MeSH terms secundary: Adolescent
Adult
Base Sequence
Child
Child, Preschool
Chromosome Breakpoints
Cognition Disorders/diagnosis
Comparative Genomic Hybridization
Developmental Disabilities/diagnosis
Facies
Female
Gene Order
Humans
Infant
Male
Molecular Sequence Data
Muscle Hypotonia/diagnosis
Phenotype
Sequence Alignment
Syndrome
Young Adult
[Pt] Publication type:JOURNAL ARTICLE; RESEARCH SUPPORT, N.I.H., EXTRAMURAL; RESEARCH SUPPORT, NON-U.S. GOV'T
[Em] Entry month:1407
[Js] Journal subset:IM
[Da] Date of entry for processing:130926
[St] Status:MEDLINE
[do] DOI:10.1002/humu.22384

  6 / 5259 MEDLINE  
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[PMID]: 23824674
[Au] Autor:Iida A; Simsek-Kiper PÖ; Mizumoto S; Hoshino T; Elcioglu N; Horemuzova E; Geiberger S; Yesil G; Kayserili H; Utine GE; Boduroglu K; Watanabe S; Ohashi H; Alanay Y; Sugahara K; Nishimura G; Ikegawa S
[Ad] Address:Laboratory for Bone and Joint Diseases, Center for Integrative Medical Science, RIKEN, Tokyo, Japan.
[Ti] Title:Clinical and radiographic features of the autosomal recessive form of brachyolmia caused by PAPSS2 mutations.
[So] Source:Hum Mutat;34(10):1381-6, 2013 Oct.
[Is] ISSN:1098-1004
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:Brachyolmia is a heterogeneous skeletal dysplasia characterized by generalized platyspondyly without significant long-bone abnormalities. Based on the mode of inheritance and radiographic features, at least three types of brachyolmia have been postulated. We recently identified an autosomal recessive form of brachyolmia that is caused by loss-of-function mutations of PAPSS2, the gene encoding PAPS (3'-phosphoadenosine 5'-phosphosulfate) synthase 2. To understand brachyolmia caused by PAPSS2 mutations (PAPSS2-brachyolmia), we extended our PAPSS2 mutation analysis to 13 patients from 10 families and identified homozygous or compound heterozygous mutations in all. Nine different mutations were found: three splice donor-site mutations, three missense mutations, and three insertion or deletion mutations within coding regions. In vitro enzyme assays showed that the missense mutations were also loss-of-function mutations. Phenotypic characteristics of PAPSS2-brachyolmia include short-trunk short stature, normal intelligence and facies, spinal deformity, and broad proximal interphalangeal joints. Radiographic features include platyspondyly with rectangular vertebral bodies and irregular end plates, broad ilia, metaphyseal changes of the proximal femur, including short femoral neck and striation, and dysplasia of the short tubular bones. PAPSS2-brachyolmia includes phenotypes of the conventional clinical concept of brachyolmia, the Hobaek and Toledo types, and is associated with abnormal androgen metabolism.
[Mh] MeSH terms primary: Genes, Recessive
Multienzyme Complexes/genetics
Mutation
Osteochondrodysplasias/genetics
Osteochondrodysplasias/radiography
Sulfate Adenylyltransferase/genetics
[Mh] MeSH terms secundary: Child, Preschool
Consanguinity
Enzyme Activation
Exons
Female
Heterozygote
Homozygote
Humans
Introns
Male
Multienzyme Complexes/metabolism
Mutation, Missense
Osteochondrodysplasias/metabolism
Phenotype
Sulfate Adenylyltransferase/metabolism
[Pt] Publication type:JOURNAL ARTICLE; RESEARCH SUPPORT, NON-U.S. GOV'T
[Nm] Name of substance:0 (Multienzyme Complexes); EC 2.7.7.4 (PAPS synthetase); EC 2.7.7.4 (Sulfate Adenylyltransferase)
[Em] Entry month:1407
[Js] Journal subset:IM
[Da] Date of entry for processing:130926
[St] Status:MEDLINE
[do] DOI:10.1002/humu.22377

  7 / 5259 MEDLINE  
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[PMID]: 24737116
[Au] Autor:van Rheenen RW; Glaudemans AW; LA Plasschaert S; Noordzij W; Slart RH
[Ad] Address:Department of Nuclear Medicine and Molecular Imaging, University Medical Center Groningen, University of Groningen, Hanzeplein 1, Groningen, 9700 RB, The Netherlands, r.van.rheenen@umcg.nl.
[Ti] Title:Cushingoid facies on (18)F-FDG PET/CT.
[So] Source:Eur J Nucl Med Mol Imaging;41(7):1460, 2014 Jul.
[Is] ISSN:1619-7089
[Cp] Country of publication:Germany
[La] Language:eng
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1406
[Js] Journal subset:IM
[St] Status:In-Process
[do] DOI:10.1007/s00259-014-2762-2

  8 / 5259 MEDLINE  
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[PMID]: 24225993
[Au] Autor:Carapito R; Paul N; Untrau M; Ott L; Corradini N; Poignant S; Geffroy L; Caldagues E; Heymann MF; Cassagnau E; Isidor B; Bahram S
[Ad] Address:Plateforme GENOMAX, Laboratoire d'ImmunoRhumatologie Moléculaire, INSERM UMR_S1109, Centre de Recherche d'Immunologie et d'Hématologie. Faculté de Médecine, Fédération de Médecine Translationnelle de Strasbourg (FMTS), Université de Strasbourg, Strasbourg, France....
[Ti] Title:A new mutation in the C-SH2 domain of PTPN11 causes Noonan syndrome with multiple giant cell lesions.
[So] Source:J Hum Genet;59(1):57-9, 2014 Jan.
[Is] ISSN:1435-232X
[Cp] Country of publication:England
[La] Language:eng
[Ab] Abstract:Noonan syndrome (NS), an autosomal dominant multisystem disorder, is caused by the dysregulation of the RAS-MAPK pathway and is characterized by short stature, heart defects, pectus excavatum, webbed neck, learning problems, cryptorchidism and facial dysmorphism. We here present the clinical and molecular characterization of a family with NS and multiple giant cell lesions (MGCLs). The proband is a 12-year-old girl with NS and MGCL. Her mother shows typical NS without MGCL. Whole-exome sequencing of the girl, her mother and her healthy maternal grand parents revealed a previously unobserved mutation in exon 5 of the PTPN11 gene (c.598 A>T; p.N200Y), transmitted from the mother to the proband. As no other modification in the RAS-MAPK pathway genes as related to Rasopathies was detected in the proband, this report demonstrates for the first time that a unique mutation affecting this, otherwise unaffected signaling route, can cause both NS and NS/MGCL in the same family. This observation further confirms that NS/MGCL is not a distinct entity but rather that MGCL represents a rare complication of NS. Moreover, the localization of the p.N200Y mutation suggests an alternative molecular mechanism for the excessive phosphatase activity of the PTPN11-encoded protein.
[Mh] MeSH terms primary: Giant Cells/pathology
Mutation
Noonan Syndrome/genetics
Noonan Syndrome/pathology
Protein Tyrosine Phosphatase, Non-Receptor Type 11/genetics
src Homology Domains/genetics
[Mh] MeSH terms secundary: Biopsy
Child
DNA Mutational Analysis
Exome
Facies
Female
Humans
Male
Phenotype
Protein Tyrosine Phosphatase, Non-Receptor Type 11/chemistry
Synovial Membrane/metabolism
Synovial Membrane/pathology
[Pt] Publication type:CASE REPORTS; JOURNAL ARTICLE; RESEARCH SUPPORT, NON-U.S. GOV'T
[Nm] Name of substance:EC 3.1.3.48 (Protein Tyrosine Phosphatase, Non-Receptor Type 11)
[Em] Entry month:1407
[Js] Journal subset:IM
[Da] Date of entry for processing:140127
[St] Status:MEDLINE
[do] DOI:10.1038/jhg.2013.118

  9 / 5259 MEDLINE  
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[PMID]: 23495752
[Au] Autor:Maystadt I; Destree A; Benoit V; Aeby A; Lederer D; Moortgat S; Jurkiewicz D; Krajewska-Walasek M; Hanauer A; Thomas GM
[Ad] Address:Centre de Génétique Humaine.
[Ti] Title:RSK2 mutation co-segregates with X-linked intellectual disability and attenuated Coffin-Lowry phenotype in a three-generation family.
[So] Source:Clin Genet;85(1):96-9, 2014 Jan.
[Is] ISSN:1399-0004
[Cp] Country of publication:Denmark
[La] Language:eng
[Mh] MeSH terms primary: Coffin-Lowry Syndrome/diagnosis
Coffin-Lowry Syndrome/genetics
Mutation
Nondisjunction, Genetic
Phenotype
Ribosomal Protein S6 Kinases, 90-kDa/genetics
[Mh] MeSH terms secundary: Abnormalities, Multiple/diagnosis
Abnormalities, Multiple/genetics
Facies
Female
Humans
Male
Pedigree
[Pt] Publication type:CASE REPORTS; LETTER
[Nm] Name of substance:EC 2.7.11.1 (Ribosomal Protein S6 Kinases, 90-kDa); EC 2.7.11.1 (ribosomal protein S6 kinase, 90kDa, polypeptide 3)
[Em] Entry month:1407
[Js] Journal subset:IM
[Da] Date of entry for processing:131216
[St] Status:MEDLINE
[do] DOI:10.1111/cge.12122

  10 / 5259 MEDLINE  
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[PMID]: 23792790
[Au] Autor:Kannu P; Campos-Xavier AB; Hull D; Martinet D; Ballhausen D; Bonafé L
[Ad] Address:Division of Clinical and Metabolic Genetics, Hospital for Sick Children, Toronto, Ontario Canada. peter.kannu@sickkids.ca
[Ti] Title:Post-axial polydactyly type A2, overgrowth and autistic traits associated with a chromosome 13q31.3 microduplication encompassing miR-17-92 and GPC5.
[So] Source:Eur J Med Genet;56(8):452-7, 2013 Aug.
[Is] ISSN:1878-0849
[Cp] Country of publication:Netherlands
[La] Language:eng
[Ab] Abstract:Genomic rearrangements at chromosome 13q31.3q32.1 have been associated with digital anomalies, dysmorphic features, and variable degree of mental disability. Microdeletions leading to haploinsufficiency of miR17∼92, a cluster of micro RNA genes closely linked to GPC5 in both mouse and human genomes, has recently been associated with digital anomalies in the Feingold like syndrome. Here, we report on a boy with familial dominant post-axial polydactyly (PAP) type A, overgrowth, significant facial dysmorphisms and autistic traits who carries the smallest germline microduplication known so far in that region. The microduplication encompasses the whole miR17∼92 cluster and the first 5 exons of GPC5. This report supports the newly recognized role of miR17∼92 gene dosage in digital developmental anomalies, and suggests a possible role of GPC5 in growth regulation and in cognitive development.
[Mh] MeSH terms primary: Chromosome Duplication
Chromosomes, Human, Pair 13
Glypicans/genetics
MicroRNAs/genetics
Polydactyly/diagnosis
Polydactyly/genetics
Quantitative Trait, Heritable
[Mh] MeSH terms secundary: Adult
Comparative Genomic Hybridization
Facies
Female
Humans
Infant
Male
Phenotype
[Pt] Publication type:CASE REPORTS; JOURNAL ARTICLE; RESEARCH SUPPORT, NON-U.S. GOV'T; REVIEW
[Nm] Name of substance:0 (GPC5 protein, human); 0 (Glypicans); 0 (MIRN17-92 microRNA, human); 0 (MicroRNAs)
[Em] Entry month:1403
[Cu] Class update date: 140718
[Lr] Last revision date:140718
[Js] Journal subset:IM
[Da] Date of entry for processing:130812
[St] Status:MEDLINE


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