Linked Life Data

20420030

Source:http://linkedlifedata.com/resource/pubmed/id/20420030

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
1
pubmed:dateCreated
2010-4-27
pubmed:abstractText
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.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:issn
1015-8146
pubmed:author
pubmed:issnType
Print
pubmed:volume
21
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
53-9
pubmed:dateRevised
2011-11-17
pubmed:meshHeading
pubmed:year
2010
pubmed:articleTitle
Two cases of Sotos syndrome with novel mutations of the NSD1 gene.
pubmed:affiliation
Medical Genetics, Athens University Medical School, Aghia Sophia Children's Hospital, Athens, Greece. efrysira@med.uoa.gr
pubmed:publicationType
Journal Article, Case Reports