Park So Hyun, Lee Ji Eun, Sohn Young Bae, Ko Jung Min
Department of Pediatrics, Seoul National University Children's Hospital, Yeongeondong, Jongno-gu, Seoul 110-769, Korea; phone: +82 2 2072 3570; fax: +82 2 743 3455; e-mail:
Ann Clin Lab Sci. 2014 Spring;44(2):228-31.
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.
索托斯综合征（SS）是一种先天性过度生长综合征。大多数SS患者可检测到NSD1突变。全球范围内有少数关于SS家族遗传的报道，但韩国尚未报道过家族性病例。一名6个月大的女孩身材高大、头部巨大，伴有轻度脑室扩大，运动和语言发育略有延迟。她的母亲也身材高大，面部狭长。该婴儿及其母亲被怀疑患有家族性SS。首先通过荧光原位杂交分析排除了5号染色体q35微缺失，NSD1的直接测序显示外显子22存在一个新的杂合突变（c.6356delA；p.Asp2119Valfs*31）。本报告首次描述了一个因新的NSD1基因内突变导致两代人患SS的韩国家庭。
