A novel SOX10 variant in a Japanese girl with Waardenburg syndrome type 4C and Kallmann syndrome

Junpei Hamada,Fumihiro Ochi, Yuka Sei,Koji Takemoto,Hiroki Hirai,Misa Honda,Hironori Shibata,Tomonobu Hasegawa,Mariko Eguchi

Human Genome Variation（2020）

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摘要

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.

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关键词

Disease genetics,Hypogonadism,Biomedicine,general,Human Genetics,Molecular Medicine,Gene Function,Gene Expression,Gene Therapy

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