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A novel SOX10 variant in a Japanese girl with Waardenburg syndrome type 4C and Kallmann syndrome
Human Genome Variation ( IF 1.0 ) Pub Date : 2020-09-28 , DOI: 10.1038/s41439-020-00118-6
Junpei Hamada 1 , Fumihiro Ochi 1 , Yuka Sei 1 , Koji Takemoto 2 , Hiroki Hirai 3 , Misa Honda 4 , Hironori Shibata 4 , Tomonobu Hasegawa 4 , Mariko Eguchi 1
Affiliation  

We report the first case of Waardenburg syndrome type 4C and Kallmann syndrome in the same person. The patient, a Japanese girl, presented with bilateral iris depigmentation, bilateral sensorineural hearing loss, Hirschsprung disease, hypogonadotropic hypogonadism, and anosmia. We identified a novel SOX10 variant, c.124delC, p.Leu42Cysfs*67.



中文翻译:


一名患有 Waardenburg 综合征 4C 型和 Kallmann 综合征的日本女孩体内出现新的 SOX10 变异



我们报告了第一例同一人患有 4C 型瓦登堡综合征和卡尔曼综合征的病例。患者是一名日本女孩,患有双侧虹膜脱色、双侧感音神经性听力损失、先天性巨结肠、促性腺激素低下性腺功能减退症和嗅觉缺失症。我们鉴定了一个新的SOX10变体,c.124delC,p.Leu42Cysfs*67。

更新日期:2020-09-28
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