3例Sotos综合征的基因型与临床表现分析

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.T...

Full description

Saved in:
Bibliographic Details
Published in上海交通大学学报（医学版） Vol. 36; no. 8; pp. 1165 - 1170
Main Author 康路路 刘晓青 张惠文 邱文娟 孙昱 顾学范
Format Journal Article
LanguageChinese
Published 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 2016
Subjects
NSD1
Sotos综合征
基因型
基因型
NSD1 gene
Sotos syndrome
Sotos综合征
NSD1
genotype
Online AccessGet full text
ISSN1674-8115
DOI10.3969/j.issn.1674-8115.2016.08.011

Cover

More Information
Summary: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。
Bibliography:31-2045/R
Sotos syndrome ; NSD1 gene ; genotype
KANG Lu-lu, LIU Xiao-qing, ZHANG Hui-wen, QIU Wen-juan, SUN Yu, GU Xue-fan （Department of Pediatric Endocrinology and Genetic Metabolism, Shanghai Institute for Pediatric Research, Xinhua Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai 200092, China ）
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
ISSN:1674-8115
DOI:10.3969/j.issn.1674-8115.2016.08.011