First identified Korean family with Sotos syndrome caused by a novel intragenic mutation in NSD1.

Abstract

Sotos syndrome (SS) is a congenital overgrowth syndrome. NSD1 mutations are

identifiable in most SS patients. There have been a few reports of familial

inheritance of SS worldwide, but no familial cases have been reported in Korea. A

6-month-old girl had tall stature and macrocephaly with mild ventricular

enlargement, and showed mild delay in motor and language development. Her mother

also had tall stature and a long narrow face. The baby and her mother were

suspected of having familial SS. Chromosome 5q35 microdeletion was first ruled

out by fluorescence in situ hybridization analysis, and direct sequencing of NSD1

revealed a novel heterozygous mutation in exon 22 (c.6356delA;

p.Asp2119Valfs*31). This report describes, for the first time, a Korean family

with two generations of SS resulting from a novel intragenic NSD1 mutation.