Analysis of clinical features and genetic variation of Sotos syndrome

doi:10.3969/j.issn.1673-8640.2021.02.003

Abstract

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

CLC Number:

R446.1

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.

Figures/Tables 4

References 20

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