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[PMID]: 25714577
[Au] Autor:Monies DM; Rahbeeni Z; Abouelhoda M; Naim EA; Al-Younes B; Meyer BF; Al-Mehaidib A
[Ad] Address:*Department of Genetics, Research Centre, King Faisal Specialist Hospital and Research Centre †Saudi Human Genome Program, King Abdulaziz City for Science and Technology ‡Department of Medical Genetics, Riyadh, Kingdom of Saudi Arabia.
[Ti] Title:Expanding phenotypic and allelic heterogeneity of tricho-hepato-enteric syndrome.
[So] Source:J Pediatr Gastroenterol Nutr;60(3):352-6, 2015 Mar.
[Is] ISSN:1536-4801
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:Molecular genetics studies are of increasing importance in the diagnosis and classification of congenital diarrheal disorders. We describe the molecular genetic basis of tricho-hepato-enteric syndrome in patients from Saudi Arabia with novel mutations of SKIV2L (c.3559_3579del, p.1187_1193del) and TTC37 (C4102T, p.Q1368X). Interestingly, the congenital presence of café-au-lait spots and their distribution in the pelvis and lower limbs were a unique and consistent clinical feature of these patients and may aid differential diagnosis of congenital diarrheal disorders. This study expands allelic and phenotypic heterogeneity of syndromic diarrhea/tricho-hepato-enteric syndrome.
[Mh] MeSH terms primary: DNA Helicases/genetics
Diarrhea, Infantile/genetics
Diarrhea, Infantile/physiopathology
Fetal Growth Retardation/genetics
Fetal Growth Retardation/physiopathology
Hair Diseases/genetics
Hair Diseases/physiopathology
Hyperpigmentation/etiology
Mutation
[Mh] MeSH terms secundary: Adolescent
Adult
Alleles
Amino Acid Substitution
Child
Codon, Nonsense
Cohort Studies
Consanguinity
DNA Mutational Analysis
Facies
Family Health
Female
Gene Deletion
Humans
Male
Saudi Arabia
Young Adult
[Pt] Publication type:CASE REPORTS; JOURNAL ARTICLE; RESEARCH SUPPORT, NON-U.S. GOV'T
[Nm] Name of substance:0 (Codon, Nonsense); EC 3.6.4.- (DNA Helicases); EC 5.99.- (SKIV2L protein, human)
[Em] Entry month:1605
[Js] Journal subset:IM
[Da] Date of entry for processing:150226
[St] Status:MEDLINE
[do] DOI:10.1097/MPG.0000000000000627

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[PMID]: 26563208
[Au] Autor:Ni R; Luo K; Tian X; Yan S; Zhong J; Liu M
[Ad] Address:Institute of Geographic Sciences and Natural Resources Research, Chinese Academy of Sciences, Beijing, 100101, China....
[Ti] Title:Distribution and geological sources of selenium in environmental materials in Taoyuan County, Hunan Province, China.
[So] Source:Environ Geochem Health;38(3):927-38, 2016 Jun.
[Is] ISSN:1573-2983
[Cp] Country of publication:Netherlands
[La] Language:eng
[Ab] Abstract:The selenium (Se) distribution and geological sources in Taoyuan County, China, were determined by using hydride generation atomic fluorescence spectrometry on rock, soil, and food crop samples collected from various geological regions within the county. The results show Se contents of 0.02-223.85, 0.18-7.05, and 0.006-5.374 mg/kg in the rock, soil, and food crops in Taoyuan County, respectively. The region showing the highest Se content is western Taoyuan County amid the Lower Cambrian and Ediacaran black rock series outcrop, which has banding distributed west to east. A relatively high-Se environment is found in the central and southern areas of Taoyuan County, where Quaternary Limnetic sedimentary facies and Neoproterozoic metamorphic volcanic rocks outcrop, respectively. A relatively low-Se environment includes the central and northern areas of Taoyuan County, where Middle and Upper Cambrian and Ordovician carbonate rocks and Cretaceous sandstones and conglomerates outcrop. These results indicate that Se distribution in Taoyuan County varies markedly and is controlled by the Se content of the bedrock. The Se-enriched Lower Cambrian and Ediacaran black rock series is the primary source of the seleniferous environment observed in Taoyuan County. Potential seleniferous environments are likely to be found near outcrops of the Lower Cambrian and Ediacaran black rock series in southern China.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1605
[Js] Journal subset:IM
[St] Status:In-Data-Review
[do] DOI:10.1007/s10653-015-9772-2

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[PMID]: 26922654
[Au] Autor:Luco SM; Pohl D; Sell E; Wagner JD; Dyment DA; Daoud H
[Ad] Address:Department of Genetics, Children's Hospital of Eastern Ontario, Ottawa, ON, K1H 8L1, Canada. sluco032@uottawa.ca....
[Ti] Title:Case report of novel DYRK1A mutations in 2 individuals with syndromic intellectual disability and a review of the literature.
[So] Source:BMC Med Genet;17:15, 2016.
[Is] ISSN:1471-2350
[Cp] Country of publication:England
[La] Language:eng
[Ab] Abstract:BACKGROUND: Chromosomal deletions encompassing DYRK1A have been associated with intellectual disability for several years. More recently, point mutations in DYRK1A have been shown to be responsible for a recognizable syndrome characterized by microcephaly, developmental delay and intellectual disability (ID) as well as characteristic facial features. Here we present 2 individuals with novel mutations in DYRK1A, and a review of the cases reported to date. CASE PRESENTATION: Both individuals presented with the well-known characteristic features, as well as rarer anomalies seen in a minority of patients. Patient 1 presented shortly after birth with an enlarged cisterna magna, distal contractures, and distinctive facies that included bitemporal narrowing and deep set eyes. A de novo splice site mutation in DYRK1A [c.951 + 4_951 + 7delAGTA; p.Val222Aspfs*22] was identified by next generation sequencing. Patient 2 presented at 7 months of age with microcephaly and dysmorphic features. She went several years without a diagnosis until a de novo DYRK1A nonsense mutation [c.787C>T; p.(Arg263*)] was identified at age 12. These individuals, and the 52 cases reviewed from the literature, show the characteristic features of the DYRK1A-related syndrome including global developmental delay, ID, microcephaly, feeding difficulties, and the facial gestalt. Other common findings include seizures, vision defects, brain abnormalities and skeletal abnormalities of the hands and feet. Less common features include optic nerve defects, contractures, ataxia, and cardiac anomalies. CONCLUSION: DYRK1A testing should be considered in individuals with the facial features, intellectual disability and post-natal microcephaly. Once diagnosed with DYRK1A-related intellectual disability, a cardiac and ophthalmologic assessment would be recommended as would routine surveillance by a pediatrician for psychomotor development, growth, and feeding.
[Mh] MeSH terms primary: Intellectual Disability/genetics
Protein-Serine-Threonine Kinases/genetics
Protein-Tyrosine Kinases/genetics
[Mh] MeSH terms secundary: Adolescent
Amino Acid Sequence
Chromosome Deletion
Codon, Nonsense
Developmental Disabilities/genetics
Exons
Female
Gene Rearrangement
High-Throughput Nucleotide Sequencing
Humans
Infant
Intellectual Disability/diagnosis
Male
Microcephaly/genetics
Molecular Sequence Data
Sequence Analysis, DNA
[Pt] Publication type:CASE REPORTS; JOURNAL ARTICLE; RESEARCH SUPPORT, NON-U.S. GOV'T; REVIEW
[Nm] Name of substance:0 (Codon, Nonsense); EC 2.7.1.- (Dyrk kinase); EC 2.7.10.1 (Protein-Tyrosine Kinases); EC 2.7.11.1 (Protein-Serine-Threonine Kinases)
[Em] Entry month:1605
[Cu] Class update date: 160301
[Lr] Last revision date:160301
[Js] Journal subset:IM
[Da] Date of entry for processing:160229
[St] Status:MEDLINE
[do] DOI:10.1186/s12881-016-0276-4

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[PMID]: 26708751
[Au] Autor:Stray-Pedersen A; Cobben JM; Prescott TE; Lee S; Cang C; Aranda K; Ahmed S; Alders M; Gerstner T; Aslaksen K; Tétreault M; Qin W; Hartley T; Jhangiani SN; Muzny DM; Tarailo-Graovac M; van Karnebeek CD; Lupski JR; Ren D; Yoon G; Care4Rare Canada Consortium; Baylor-Hopkins Center for Mendelian Genomics
[Ad] Address:Department of Molecular and Human Genetics, Baylor College of Medicine and the Baylor-Hopkins Center for Mendelian Genomics, Houston, TX 77030, USA; Norwegian National Newborn Screening Program, Oslo University Hospital, Oslo 0424, Norway....
[Ti] Title:Biallelic Mutations in UNC80 Cause Persistent Hypotonia, Encephalopathy, Growth Retardation, and Severe Intellectual Disability.
[So] Source:Am J Hum Genet;98(1):202-9, 2016 Jan 7.
[Is] ISSN:1537-6605
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:Ion channel proteins are required for both the establishment of resting membrane potentials and the generation of action potentials. Hundreds of mutations in genes encoding voltage-gated ion channels responsible for action potential generation have been found to cause severe neurological diseases. In contrast, the roles of voltage-independent "leak" channels, important for the establishment and maintenance of resting membrane potentials upon which action potentials are generated, are not well established in human disease. UNC80 is a large component of the NALCN sodium-leak channel complex that regulates the basal excitability of the nervous system. Loss-of-function mutations of NALCN cause infantile hypotonia with psychomotor retardation and characteristic facies (IHPRF). We report four individuals from three unrelated families who have homozygous missense or compound heterozygous truncating mutations in UNC80 and persistent hypotonia, encephalopathy, growth failure, and severe intellectual disability. Compared to control cells, HEK293T cells transfected with an expression plasmid containing the c.5098C>T (p.Pro1700Ser) UNC80 mutation found in one individual showed markedly decreased NALCN channel currents. Our findings demonstrate the fundamental significance of UNC80 and basal ionic conductance to human health.
[Mh] MeSH terms primary: Alleles
Brain Diseases/genetics
Carrier Proteins/genetics
Growth Disorders/genetics
Intellectual Disability/genetics
Membrane Proteins/genetics
Muscle Hypotonia/genetics
Mutation
[Mh] MeSH terms secundary: Adolescent
Child
Child, Preschool
Female
Humans
Severity of Illness Index
[Pt] Publication type:CASE REPORTS; JOURNAL ARTICLE; RESEARCH SUPPORT, N.I.H., EXTRAMURAL; RESEARCH SUPPORT, NON-U.S. GOV'T
[Nm] Name of substance:0 (Carrier Proteins); 0 (Membrane Proteins); 0 (Unc80 protein, human)
[Em] Entry month:1605
[Cu] Class update date: 160220
[Lr] Last revision date:160220
[Js] Journal subset:IM
[Da] Date of entry for processing:160111
[St] Status:MEDLINE

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[PMID]: 26595769
[Au] Autor:Harley ME; Murina O; Leitch A; Higgs MR; Bicknell LS; Yigit G; Blackford AN; Zlatanou A; Mackenzie KJ; Reddy K; Halachev M; McGlasson S; Reijns MA; Fluteau A; Martin CA; Sabbioneda S; Elcioglu NH; Altmüller J; Thiele H; Greenhalgh L; Chessa L; Maghnie M; Salim M; Bober MB; Nürnberg P; Jackson SP; Hurles ME; Wollnik B; Stewart GS; Jackson AP
[Ad] Address:MRC Human Genetics Unit, IGMM, University of Edinburgh, Edinburgh, UK....
[Ti] Title:TRAIP promotes DNA damage response during genome replication and is mutated in primordial dwarfism.
[So] Source:Nat Genet;48(1):36-43, 2016 Jan.
[Is] ISSN:1546-1718
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:DNA lesions encountered by replicative polymerases threaten genome stability and cell cycle progression. Here we report the identification of mutations in TRAIP, encoding an E3 RING ubiquitin ligase, in patients with microcephalic primordial dwarfism. We establish that TRAIP relocalizes to sites of DNA damage, where it is required for optimal phosphorylation of H2AX and RPA2 during S-phase in response to ultraviolet (UV) irradiation, as well as fork progression through UV-induced DNA lesions. TRAIP is necessary for efficient cell cycle progression and mutations in TRAIP therefore limit cellular proliferation, providing a potential mechanism for microcephaly and dwarfism phenotypes. Human genetics thus identifies TRAIP as a component of the DNA damage response to replication-blocking DNA lesions.
[Mh] MeSH terms primary: DNA Damage
Dwarfism/genetics
Mutation
Tumor Necrosis Factor Receptor-Associated Peptides and Proteins/metabolism
Ubiquitin-Protein Ligases/metabolism
[Mh] MeSH terms secundary: Amino Acid Sequence
Cell Proliferation/genetics
Child, Preschool
DNA Damage/radiation effects
Facies
Histones/genetics
Histones/metabolism
Humans
Microcephaly/genetics
Molecular Sequence Data
Phosphorylation
Replication Protein A/metabolism
S Phase/radiation effects
Tumor Necrosis Factor Receptor-Associated Peptides and Proteins/genetics
Ubiquitin-Protein Ligases/genetics
Ultraviolet Rays
[Pt] Publication type:JOURNAL ARTICLE; RESEARCH SUPPORT, NON-U.S. GOV'T
[Nm] Name of substance:0 (H2AFX protein, human); 0 (Histones); 0 (Replication Protein A); 0 (Tumor Necrosis Factor Receptor-Associated Peptides and Proteins); EC 2.7.7.7 (RPA2 protein, human); EC 6.3.2.19 (TRAIP protein, human); EC 6.3.2.19 (Ubiquitin-Protein Ligases)
[Em] Entry month:1605
[Cu] Class update date: 160223
[Lr] Last revision date:160223
[Js] Journal subset:IM
[Da] Date of entry for processing:151229
[St] Status:MEDLINE
[do] DOI:10.1038/ng.3451

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[PMID]: 26287486
[Au] Autor:Cincotta A; Yans J; Godefroit P; Garcia G; Dejax J; Benammi M; Amico S; Valentin X
[Ad] Address:Department of Geology, NaGRIDD, University of Namur, Namur, Belgium; Directorate 'Earth and History of Life', Royal Belgian Institute of Natural Sciences, Brussels, Belgium....
[Ti] Title:Integrated Paleoenvironmental Reconstruction and Taphonomy of a Unique Upper Cretaceous Vertebrate-Bearing Locality (Velaux, Southeastern France).
[So] Source:PLoS One;10(8):e0134231, 2015.
[Is] ISSN:1932-6203
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:The Velaux-La Bastide Neuve fossil-bearing site (Bouches-du-Rhône, France) has yielded a diverse vertebrate assemblage dominated by dinosaurs, including the titanosaur Atsinganosaurus velauciensis. We here provide a complete inventory of vertebrate fossils collected during two large-scale field campaigns. Numerous crocodilian teeth occur together with complete skulls. Pterosaur, hybodont shark and fish elements are also represented but uncommon. Magnetostratigraphic analyses associated with biostratigraphic data from dinosaur eggshell and charophytes suggest a Late Campanian age for the locality. Lithologic and taphonomic studies, associated with microfacies and palynofacies analyses, indicate a fluvial setting of moderate energy with broad floodplain. Palynomorphs are quite rare; only three taxa of pollen grains occur: a bisaccate taxon, a second form probably belonging to the Normapolles complex, and another tricolporate taxon. Despite the good state of preservation, these taxa are generally difficult to identify, since they are scarce and have a very minute size. Most of the vertebrate remains are well preserved and suggest transport of the carcasses over short distances before accumulation in channel and overbank facies, together with reworked Aptian grains of glauconite, followed by a rapid burial. The bones accumulated in three thin layers that differ by their depositional modes and their taphonomic histories. Numerous calcareous and iron oxides-rich paleosols developed on the floodplain, suggesting an alternating dry and humid climate in the region during the Late Campanian.
[Mh] MeSH terms primary: Bone and Bones
Fossils
Vertebrates
[Mh] MeSH terms secundary: Alligators and Crocodiles/anatomy & histology
Animals
Biological Evolution
Bone and Bones/anatomy & histology
Dinosaurs/anatomy & histology
Environment
Fishes/anatomy & histology
Fossils/anatomy & histology
Paleontology/methods
Skull/anatomy & histology
Tooth/anatomy & histology
Vertebrates/anatomy & histology
[Pt] Publication type:JOURNAL ARTICLE; RESEARCH SUPPORT, NON-U.S. GOV'T
[Em] Entry month:1605
[Cu] Class update date: 150902
[Lr] Last revision date:150902
[Js] Journal subset:IM
[Da] Date of entry for processing:150820
[St] Status:MEDLINE
[do] DOI:10.1371/journal.pone.0134231

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[PMID]: 26285132
[Au] Autor:Jabbi M; Chen Q; Turner N; Kohn P; White M; Kippenhan JS; Dickinson D; Kolachana B; Mattay V; Weinberger DR; Berman KF
[Ad] Address:1] Section on Integrative Neuroimaging, National Institute of Mental Health, Intramural Research Program, National Institutes of Health, Bethesda, MD, USA [2] Clinical and Translational Neuroscience Branch, National Institute of Mental Health, Intramural Research Program, National Institutes of Heal...
[Ti] Title:Variation in the Williams syndrome GTF2I gene and anxiety proneness interactively affect prefrontal cortical response to aversive stimuli.
[So] Source:Transl Psychiatry;5:e622, 2015.
[Is] ISSN:2158-3188
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:Characterizing the molecular mechanisms underlying the heritability of complex behavioral traits such as human anxiety remains a challenging endeavor for behavioral neuroscience. Copy-number variation (CNV) in the general transcription factor gene, GTF2I, located in the 7q11.23 chromosomal region that is hemideleted in Williams syndrome and duplicated in the 7q11.23 duplication syndrome (Dup7), is associated with gene-dose-dependent anxiety in mouse models and in both Williams syndrome and Dup7. Because of this recent preclinical and clinical identification of a genetic influence on anxiety, we examined whether sequence variation in GTF2I, specifically the single-nucleotide polymorphism rs2527367, interacts with trait and state anxiety to collectively impact neural response to anxiety-laden social stimuli. Two hundred and sixty healthy adults completed the Tridimensional Personality Questionnaire Harm Avoidance (HA) subscale, a trait measure of anxiety proneness, and underwent functional magnetic resonance imaging (fMRI) while matching aversive (fearful or angry) facial identity. We found an interaction between GTF2I allelic variations and HA that affects brain response: in individuals homozygous for the major allele, there was no correlation between HA and whole-brain response to aversive cues, whereas in heterozygotes and individuals homozygous for the minor allele, there was a positive correlation between HA sub-scores and a selective dorsolateral prefrontal cortex (DLPFC) responsivity during the processing of aversive stimuli. These results demonstrate that sequence variation in the GTF2I gene influences the relationship between trait anxiety and brain response to aversive social cues in healthy individuals, supporting a role for this neurogenetic mechanism in anxiety.
[Mh] MeSH terms primary: Anxiety/genetics
DNA Copy Number Variations/genetics
Prefrontal Cortex/physiopathology
Transcription Factors, TFII/genetics
Williams Syndrome/genetics
[Mh] MeSH terms secundary: Adolescent
Adult
Anger/physiology
Anxiety/complications
Anxiety/physiopathology
Fear/physiology
Female
Humans
Male
Middle Aged
Williams Syndrome/complications
Williams Syndrome/physiopathology
Young Adult
[Pt] Publication type:JOURNAL ARTICLE; RESEARCH SUPPORT, N.I.H., INTRAMURAL
[Nm] Name of substance:0 (GTF2I protein, human); 0 (Transcription Factors, TFII)
[Em] Entry month:1605
[Cu] Class update date: 150919
[Lr] Last revision date:150919
[Js] Journal subset:IM
[Da] Date of entry for processing:150819
[Cl] Clinical Trial:ClinicalTrial
[St] Status:MEDLINE
[do] DOI:10.1038/tp.2015.98

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[PMID]: 26275701
[Au] Autor:Huh R; Cho SY; Kim J; Ki CS; Jin DK
[Ad] Address:Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea....
[Ti] Title:Letter to the Editor: A Novel Mutation in the CREBBP Gene of a Korean Girl with Rubinstein-Taybi syndrome.
[So] Source:Ann Clin Lab Sci;45(4):458-61, 2015.
[Is] ISSN:1550-8080
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:Rubinstein-Taybi syndrome (RTS) is a rare congenital disorder characterized by broad thumbs and halluces, dysmorphic facial features, mental retardation, and short stature. Mutations in the cAMP-response element binding protein-BP (CREBBP) gene (50-60% of cases) and E1A-binding protein (EP300, 3%) are known genetic causes in affected individuals. Here, we describe a genetically confirmed Korean RTS patient with atypical features, including Hirschsprung disease and growth hormone deficiency. Mutational analysis revealed a novel heterozygous frameshift mutation, c.2064_2077del14 (p.Gly689Cysfs*32) in the CREBBP gene.
[Mh] MeSH terms primary: CREB-Binding Protein/genetics
Mutation/genetics
Rubinstein-Taybi Syndrome/genetics
[Mh] MeSH terms secundary: Child
DNA Mutational Analysis
Female
Humans
Republic of Korea
[Pt] Publication type:CASE REPORTS; LETTER
[Nm] Name of substance:0 (CREBBP protein, human); EC 2.3.1.48 (CREB-Binding Protein)
[Em] Entry month:1605
[Js] Journal subset:IM
[Da] Date of entry for processing:150815
[St] Status:MEDLINE

  9 / 6042 MEDLINE  
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[PMID]: 25652421
[Au] Autor:Parenti I; Gervasini C; Pozojevic J; Graul-Neumann L; Azzollini J; Braunholz D; Watrin E; Wendt KS; Cereda A; Cittaro D; Gillessen-Kaesbach G; Lazarevic D; Mariani M; Russo S; Werner R; Krawitz P; Larizza L; Selicorni A; Kaiser FJ
[Ad] Address:Medical Genetics, Department of Health Sciences, Università degli Studi di Milano, Milan, Italy....
[Ti] Title:Broadening of cohesinopathies: exome sequencing identifies mutations in ANKRD11 in two patients with Cornelia de Lange-overlapping phenotype.
[So] Source:Clin Genet;89(1):74-81, 2016 Jan.
[Is] ISSN:1399-0004
[Cp] Country of publication:Denmark
[La] Language:eng
[Ab] Abstract:Cornelia de Lange syndrome (CdLS) and KBG syndrome are two distinct developmental pathologies sharing common features such as intellectual disability, psychomotor delay, and some craniofacial and limb abnormalities. Mutations in one of the five genes NIPBL, SMC1A, SMC3, HDAC8 or RAD21, were identified in at least 70% of the patients with CdLS. Consequently, additional causative genes, either unknown or responsible of partially merging entities, possibly account for the remaining 30% of the patients. In contrast, KBG has only been associated with mutations in ANKRD11. By exome sequencing we could identify heterozygous loss-of-function mutations in ANKRD11 in two patients with the clinical diagnosis of CdLS. Both patients show features reminiscent of CdLS such as characteristic facies as well as a small head circumference which is not described for KBG syndrome. Patient A, who carries the mutation in a mosaic state, is a 4-year-old girl with features reminiscent of CdLS. Patient B, a 15-year-old boy, shows a complex phenotype which resembled CdLS during infancy, but has developed to a more KBG overlapping phenotype during childhood. These findings point out the importance of screening ANKRD11 in young CdLS patients who were found to be negative for mutations in the five known CdLS genes.
[Pt] Publication type:JOURNAL ARTICLE; RESEARCH SUPPORT, NON-U.S. GOV'T
[Em] Entry month:1601
[Js] Journal subset:IM
[St] Status:In-Process
[do] DOI:10.1111/cge.12564

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[PMID]: 26374189
[Au] Autor:Barraza-García J; Iván Rivera-Pedroza C; Salamanca L; Belinchón A; López-González V; Sentchordi-Montané L; del Pozo Á; Santos-Simarro F; Campos-Barros Á; Lapunzina P; Guillén-Navarro E; González-Casado I; García-Miñaur S; Heath KE
[Ad] Address:Institute of Medical & Molecular Genetics (INGEMM), Hospital Universitario La Paz, Universidad Autónoma de Madrid, IdiPAZ, Madrid, Spain....
[Ti] Title:Two novel POC1A mutations in the primordial dwarfism, SOFT syndrome: Clinical homogeneity but also unreported malformations.
[So] Source:Am J Med Genet A;170A(1):210-6, 2016 Jan.
[Is] ISSN:1552-4833
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:Primordial dwarfism encompasses rare conditions characterized by severe intrauterine growth retardation and growth deficiency throughout life. Recently, three POC1A mutations have been reported in six families with the primordial dwarfism, SOFT syndrome (Short stature, Onychodysplasia, Facial dysmorphism, and hypoTrichosis). Using a custom-designed Next-generation sequencing skeletal dysplasia panel, we have identified two novel homozygous POC1A mutations in two individuals with primordial dwarfism. The severe growth retardation and the facial profiles are strikingly similar between our patients and those described previously. However, one of our patients was diagnosed with severe foramen magnum stenosis and subglottic tracheal stenosis, malformations not previously associated with this syndrome. Our findings confirm that POC1A mutations cause SOFT syndrome and that mutations in this gene should be considered in patients with severe pre- and postnatal short stature, symmetric shortening of long bones, triangular facies, sparse hair and short, thickened distal phalanges.
[Pt] Publication type:JOURNAL ARTICLE; RESEARCH SUPPORT, NON-U.S. GOV'T
[Em] Entry month:1601
[Js] Journal subset:IM
[St] Status:In-Process
[do] DOI:10.1002/ajmg.a.37393


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