Sotos综合征患儿临床特征及基因变异分析

doi:10.3969/j.issn.1673-8640.2021.02.003

检验医学 ›› 2021, Vol. 36 ›› Issue (2): 130-134.DOI: 10.3969/j.issn.1673-8640.2021.02.003

• 基因组技术与罕见病诊治专题 • 上一篇下一篇

Sotos综合征患儿临床特征及基因变异分析

郑洪雪¹, 陈瑶², 殷丽萍¹, 李辛², 丁宇², 李娟², 王秀敏²()

1.常州市第一人民医院苏州大学附属第三医院,江苏常州 213000
2.上海交通大学医学院附属上海儿童医学中心内分泌代谢科,上海 200127

收稿日期:2020-03-26 出版日期:2021-02-28 发布日期:2021-02-28
通讯作者: 王秀敏，E-mail：wangxiumin1019@126.com。
作者简介:郑洪雪,1985年生,硕士,主治医师,主要从事小儿内分泌疾病诊治研究。

Analysis of clinical features and genetic variation of Sotos syndrome

ZHENG Hongxue¹, CHEN Yao², YIN Liping¹, LI Xin², DING Yu², LI Juan², WANG Xiumin²()

1. The First People's Hospital of Changzhou,The Third Affiliated Hospital of Soochow University,Changzhou 213000,China
2. Department of Endocrinology and Metabolism,Shanghai Children's Medical Center,Shanghai Jiao Tong University School of Medicine,Shanghai 200127,China

Received:2020-03-26 Online:2021-02-28 Published:2021-02-28
Contact: WANG Xiumin，E-mail：wangxiumin1019@126.com

摘要/Abstract

摘要：

目的分析1例误诊为性早熟的Sotos综合征患儿的临床特征及基因变异特点。方法回顾性分析1例误诊为性早熟的Sotos综合征患儿的临床资料及相关实验室检查结果。结果患儿临床表现为生长过快、发育落后、特殊面容（大头颅、前额突出、下颌窄、高腭弓）。外院误诊为性早熟,给予醋酸曲普瑞林治疗15个月,生长速度未见减缓。基因测序显示患儿核受体结合SET域蛋白1（NSD1）基因（NM_022455.4）存在“错义变异c.5854C>T（p.Arg1952Trp）（杂合）”,其父亲携带该位点变异（杂合）。按照美国医学遗传学和基因组学学会（ACMG）变异分类标准,归类为“可能致病性变异”。结论该患儿确诊为Sotos综合征,NSD1基因突变是其致病原因。Sotos综合征以身高增长过快为主要表现,伴随骨龄显著提前,不能仅靠性激素激发试验结果与性早熟鉴别,临床应严格评估第二性征发育,避免误诊。

关键词: 核受体结合SET域蛋白1, Sotos综合征, 基因突变, 误诊, 性早熟

Abstract:

Objective To analyze clinical characteristics and genetic variation of a case of Sotos syndrome misdiagnosed as precocious puberty. Methods The clinical data and related laboratory test results from one child with Sotos syndrome misdiagnosed as precocious puberty were retrospectively analyzed . Results Clinical manifestations of the child presented overgrowth,developmental delay,and typical facial appearance（macrocephaly,broad forehead,pointed chin,high palate）. The patient was misdiagnosed as precocious puberty in other hospital and treated with triptorelin acetate for 15 months,but growth rate has not slowed down. Heterozygous missense variants in nuclear receptor-binding SET-domain-containing protein 1（NSD1）gene was identified in proband by gene sequencing,which was c.5854C>T（p.Arg1952Trp）. His father had the same heterozygous mutation. This mutation had been classified to likely pathogenic mutation by American College of Medical Genetics and Genomics（ACMG） variation classification criteria. Conclusion The diagnosis of Sotos syndrome is confirmed in this child and NSD1 gene mutation is the cause. Sotos syndrome is characterized by overgrowth and bone age advanced. The results of the provocation test cannot be distinguished from precocious puberty alone. The clinical development of secondary sexual characteristics should be strictly evaluated to avoid misdiagnosis.

Key words: Nuclear receptor-binding SET-domain-containing protein 1, Sotos syndrome, Gene mutation, Misdiagnosis, Precocious puberty

中图分类号:

R446.1

郑洪雪, 陈瑶, 殷丽萍, 李辛, 丁宇, 李娟, 王秀敏. Sotos综合征患儿临床特征及基因变异分析[J]. 检验医学, 2021, 36(2): 130-134.

ZHENG Hongxue, CHEN Yao, YIN Liping, LI Xin, DING Yu, LI Juan, WANG Xiumin. Analysis of clinical features and genetic variation of Sotos syndrome[J]. Laboratory Medicine, 2021, 36(2): 130-134.

图/表 4

图1 本例患儿特殊面容注：大头颅、前额突出、下颌窄、高腭弓。

图2 本例患儿2019年1月10日的左腕正位片注：各掌指骨形态正常,骨质结构无破坏;年龄为6岁11个月,骨龄为8~9岁。

图3 患儿治疗前、治疗中及治疗后的生长曲线

图4 NSD1基因测序图注：NSD1基因存在“错义变异c.5854C>T（p.Arg1952Trp）（杂合）”。

参考文献 20

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Sotos综合征患儿临床特征及基因变异分析

Analysis of clinical features and genetic variation of Sotos syndrome

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