Original article (Clinical research)

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

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  • 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 published: 2016-08-31

Supported by

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

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.

Cite this article

KANG Lu-lu, LIU Xiao-qing, ZHANG Hui-wen, QIU Wen-juan, SUN Yu, GU Xue-fan . Analysis of genotypes and clinical manifestations of three cases of Sotos syndrome[J]. Journal of Shanghai Jiao Tong University (Medical Science), 2016 , 36(8) : 1165 . DOI: 10.3969/j.issn.1674-8115.2016.08.011

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