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Article

The first Japanese familial Sotos syndrome with a novel mutation of the NSD1 gene.

The Kobe journal of medical sciences - 1 Jan 2006

Tei Satoshi, Tsuneishi Syuichi, Matsuo Masafumi

Abstract excerpt

Sotos syndrome is caused by the haploinsufficiency of the NSD1 gene located in 5q35. More than 70% of the Japanese cases carry microdeletions encompassing of this gene, while point mutations are common in Caucasians. Only 15 familial cases of Sotos syndrome have been reported and all cases shown to have not microdeletions but point mutations. We identified the first Japanese familial case (mother and 3 children)....

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Identifiers

PMID: 16547423

Genes

NSD1

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