3例Sotos综合征的基因型与临床表现分析  

Analysis of genotypes and clinical manifestations of three cases of Sotos syndrome

作　　者：康路路 刘晓青[1] 张惠文[1] 邱文娟[1] 孙昱[1] 顾学范[1] 

机构地区：[1]上海交通大学医学院附属新华医院,上海市儿科医学研究所内分泌遗传代谢病研究室,上海200092

出　　处：《上海交通大学学报（医学版）》2016年第8期1165-1170,共6页Journal of Shanghai Jiao tong University:Medical Science

基　　金：国家自然科学基金(81570516,81270936);上海市教育委员会高峰高原学科建设计划(20152520)~~

摘　　要：目的·探讨Sotos综合征的临床特征与遗传特征，提高对中国人群Sotos综合征的认识。方法·对3例Sotos综合征患儿的临床特征和基因测序结果进行回顾性分析。结果·3例患儿均是男性，来自无关家庭，6～11月龄。3例患儿均以“智力落后”为首发症状。其中2例患儿表现为特殊面容，包括巨颅、额头突起、眼裂下斜、尖下颌、高腭弓、双颞部毛发退化；1例患儿无特殊面容。基因测序检测到3例患儿均携带一个NSD1基因杂合致病性突变，但突变位点不同。其中c.4118_4119insTGACCTT（p.L1373F fs＊18）为新发现的突变，c.5885T〉C（p.Ile1962Thr）和c.5990A〉G（p.Tyr1997Cys）在文献中已有报道。3例患儿均确诊为Sotos综合征。结论·Sotos综合征的典型症状有助于诊断该病，DNA测序分析等基因诊断可确诊该病。Sotos综合征的表现型与基因型具有相关性。Objective · To investigate the clinical and genetic characteristics of Sotos syndrome and improve the awareness of this disorder among Chinese population. Methods · Clinical characteristics and gene sequencing results of three sporadic cases of Sotos syndrome were retrospectively reviewed. Results · Three male pediatric patients aged from 6 to 11 months were from unrelated families. The first symptom of all three patients was mental retardation. Two of them showed characterized facial appearance, including macrocephaly, broad forehead, down-slanting palpebral fissures, pointed chin, high palate, and bitemporal hair sparsity. One patient had normal facial appearance. Gene sequencing found that all patients carried a heterozygous pathogenic mutation in NSD1 gene with different mutation sites. The c.4118_4119insTGACCTT （L1373F fs＊18） was a novel mutation, while c.5885T〉C （p.Ile1962Thr） and c.5990A〉G （p.Tyr1997Cys） had been reported. The Sotos syndrome was confirmed in 3 patients. Conclusion · Typical symptoms can help diagnose the Sotos syndrome and genetic diagnoses such as DNA sequencing can confirm this disease. Genotypes are associated with phenotypes in Satos syndrome.

关 键 词：Sotos综合征 NSD1 基因型 

分 类 号：R725.9[医药卫生—儿科]