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

Journal ArticleOPEN ACCESS

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

Hamada J
Ochi F
Sei Y
et al.

Human Genome Variation (2020) 7(1)

DOI: 10.1038/s41439-020-00118-6

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Abstract

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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Hamada, J., Ochi, F., Sei, Y., Takemoto, K., Hirai, H., Honda, M., … Eguchi, M. (2020). A novel SOX10 variant in a Japanese girl with Waardenburg syndrome type 4C and Kallmann syndrome. Human Genome Variation, 7(1). https://doi.org/10.1038/s41439-020-00118-6

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

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