Description:
SOTOS SYNDROME
NUCLEAR RECEPTOR-BINDING Su-var, ENHANCER OF ZESTE, AND TRITHORAX DOMAIN PROTEIN 1; NSD1
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases |
| Class |
Disorders of the Nervous System |
| Quantity |
25 µg |
| Quantitation Method |
Please see our FAQ |
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Biopsy Source
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Peripheral vein
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Cell Type
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B-Lymphocyte
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Tissue Type
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Blood
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Transformant
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Epstein-Barr Virus
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Sample Source
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DNA from LCL
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Race
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White
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Family Member
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1
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Relation to Proband
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proband
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Confirmation
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Clinical summary/Case history
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Species
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Homo sapiens
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Common Name
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Human
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Remarks
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin confirmed by LINE assay |
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| Gene |
NSD1 |
| Chromosomal Location |
5q35 |
| Allelic Variant 1 |
R2005Q; SOTOS SYNDROME |
| Identified Mutation |
ARG2005GLN |
| Remarks |
Clinically affected; born at 35-36 weeks gestation; birth weight 3.18 kg (91st centile); jaundice and feeding difficulty in neonatal period; severe intellectual impairment; overgrowth; height 91-98th centile; weight >99.6th centile; head circumference 98th centile; no family history of Sotos syndrome or intellectual impairment; unaffected parents negative for NSD1 mutations; mother is GM19976; father is GM19974; advanced bone age; 46,XY; negative Fragile X testing; donor subject found to have missense mutation, a G>A change at nucleotide 6014 in exon 20 of the NSD1 gene (6014G>A) causing an arginine to glutamine change at codon 2005 [Arg2005Gln (R2005Q)]. |
| Caballero M, Ge T, Rebelo AR, Seo S, Kim S, Brooks K, Zuccaro M, Kanagaraj R, Vershkov D, Kim D, Smogorzewska A, Smolka M, Benvenisty N, West SC, Egli D, Mace EM, Koren A, Comprehensive analysis of DNA replication timing across 184 cell lines suggests a role for MCM10 in replication timing regulation Human molecular genetics: 2021 |
| PubMed ID: 35394024 |
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| Douglas J, Hanks S, Temple IK, Davies S, Murray A, Upadhyaya M, Tomkins S, Hughes HE, Cole TR, Rahman N, NSD1 mutations are the major cause of Sotos syndrome and occur in some cases of Weaver syndrome but are rare in other overgrowth phenotypes. Am J Hum Genet72(1):132-43 2003 |
| PubMed ID: 12464997 |
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