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

doi:10.1038/s41439-020-00118-6

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

School of Medicine

Research output: Contribution to journal › Article › peer-review

4 Citations (Scopus)

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.

Original language	English
Article number	30
Journal	Human Genome Variation
Volume	7
Issue number	1
DOIs	https://doi.org/10.1038/s41439-020-00118-6
Publication status	Published - 2020 Dec 1

ASJC Scopus subject areas

Biochemistry
Molecular Biology
Genetics

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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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AU - Hamada, Junpei

AU - Ochi, Fumihiro

AU - Sei, Yuka

AU - Takemoto, Koji

AU - Hirai, Hiroki

AU - Honda, Misa

AU - Shibata, Hironori

AU - Hasegawa, Tomonobu

AU - Eguchi, Mariko

PY - 2020/12/1

Y1 - 2020/12/1

N2 - 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.

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

Abstract

ASJC Scopus subject areas

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