| Two cases of Sotos syndrome with novel mutations of the NSD1 gene. | |
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MedLine Citation:
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PMID: 20420030 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Mutations and deletions of the NSD1 gene, located on chromosome 5q35, are responsible for over 90% of cases of Sotos syndrome. Fluorescent in situ hybridization analysis (FISH), MLPA or multiplex quantitative PCR allow detection of total/partial NSD1 deletions and direct sequencing allows detection of NSD1 mutations. We describe two boys with Sotos syndrome in whom PCR amplification and direct sequencing of the NSD1 gene identified two novel mutations not previously described: c.4736dupG in exon 12 and c.3938_3939insT in exon 7. In addition to the cardinal and major features of the syndrome (abnormal facial appearance, overgrowth, cardiac anomalies, renal anomalies, hypotonia, neonatal jaundice, seizures and brain MRI abnormalities) in both patients, one boy also had cryptorchidism and vertebral anomalies, features considered not common. Despite the wide range of possible combinations of phenotypic features, molecular analysis can correctly identify Sotos syndrome. |
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Authors:
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H Fryssira; P Drossatou; R Sklavou; F Barambouti; N Manolaki |
Publication Detail:
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Type: Case Reports; Journal Article |
Journal Detail:
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Title: Genetic counseling (Geneva, Switzerland) Volume: 21 ISSN: 1015-8146 ISO Abbreviation: Genet. Couns. Publication Date: 2010 |
Date Detail:
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Created Date: 2010-04-27 Completed Date: 2010-05-14 Revised Date: 2010-06-21 |
Medline Journal Info:
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Nlm Unique ID: 9015261 Medline TA: Genet Couns Country: Switzerland |
Other Details:
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Languages: eng Pagination: 53-9 Citation Subset: IM |
Affiliation:
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Medical Genetics, Athens University Medical School, Aghia Sophia Children's Hospital, Athens, Greece. efrysira@med.uoa.gr |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Abnormalities, Multiple
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genetics* Child, Preschool Craniofacial Abnormalities / genetics Cytogenetic Analysis / methods Gigantism / genetics Humans Infant Intracellular Signaling Peptides and Proteins / genetics* Male Mental Retardation / genetics Mutation* Nuclear Proteins / genetics* Syndrome |
| Chemical | |
Reg. No./Substance:
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0/Intracellular Signaling Peptides and Proteins; 0/NSD1 protein, human; 0/Nuclear Proteins |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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