Spectrum of NSD1 gene mutations in southern Chinese patients with Sotos syndrome / 中华医学杂志(英文版)
Chinese Medical Journal
;
(24): 1499-1506, 2005.
Article
in English
| WPRIM
| ID: wpr-320743
ABSTRACT
<p><b>BACKGROUND</b>Sotos syndrome is an overgrowth syndrome with characteristic facial gestalt and mental retardation of variable severity. Haploinsufficiency of the NSD1 gene has been implicated as the major cause of Sotos syndrome, with a predominance of microdeletions reported in Japanese patients. This study was conducted to investigate into the spectrum of NSD1 gene mutations in southern Chinese patients with Sotos syndrome.</p><p><b>METHODS</b>Thirty-six Chinese patients with Sotos syndrome and two patients with Weaver syndrome were subject to molecular testing.</p><p><b>RESULTS</b>NSD1 gene mutations were detected in 26 (72%) Sotos patients. Microdeletion was found in only 3 patients, while the other 23 had point mutations (6 frameshift, 8 nonsense, 2 spice site, and 7 missense). Of these, 19 mutations were never reported. NSD1 gene mutations were not found in the two patients with Weaver syndrome.</p><p><b>CONCLUSIONS</b>Most cases of Sotos syndrome are caused by NSD1 gene defects, but the spectrum of mutations is different from that of Japanese patients. Genotype-phenotype correlation showed that patients with microdeletions might be more prone to congenital heart disease but less likely to have somatic overgrowth. The two patients with Weaver syndrome were not found to have NSD1 gene mutations, but the number was too small for any conclusion to be drawn.</p>
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Syndrome
/
Congenital Abnormalities
/
Abnormalities, Multiple
/
Brain
/
Nuclear Proteins
/
Developmental Disabilities
/
Gene Deletion
/
Craniofacial Abnormalities
/
Intracellular Signaling Peptides and Proteins
/
Genetics
Limits:
Child, preschool
/
Humans
/
Infant
Language:
English
Journal:
Chinese Medical Journal
Year:
2005
Type:
Article
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