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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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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