上海交通大学学报（医学版）

上海交通大学学报（医学版）

• 论著（临床研究） • 上一篇    下一篇

3例Sotos综合征的基因型与临床表现分析

康路路，刘晓青，张惠文，邱文娟，孙 昱，顾学范   

  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
  • 出版日期:2016-08-29 发布日期:2016-08-31
  • 通讯作者: 张惠文，电子信箱：huiwenzhang@ yahoo.com。
  • 作者简介:康路路（1989—），女，硕士生；电子信箱：kangluzzu@163.com。
  • 基金资助:

    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）

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

KANG Lu-lu, LIU Xiao-qing, ZHANG Hui-wen, QIU Wen-juan, SUN Yu, GU Xue-fan   

  1. Department of Pediatric Endocrinology and Genetic Metabolism, Shanghai Institute for Pediatric Research, Xinhua Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai 200092, China
  • Online:2016-08-29 Published:2016-08-31
  • Supported by:

    National Natural Science Foundation of China, 81570516, 81270936; Shanghai Municipal Education Commission—Gaofeng Clinical Medicine Grant Support, 20152520

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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。

关键词: Sotos综合征, NSD1, 基因型

Abstract:

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.

Key words: Sotos syndrome, NSD1 gene, genotype