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

医学部

研究成果: Article › 査読

4 被引用数 (Scopus)

抄録

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.

本文言語	English
論文番号	30
ジャーナル	Human Genome Variation
巻	7
号	1
DOI	https://doi.org/10.1038/s41439-020-00118-6
出版ステータス	Published - 2020 12月 1

ASJC Scopus subject areas

生化学
分子生物学
遺伝学

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10.1038/s41439-020-00118-6

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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

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