A novel <i>SOX10</i> variant in a Japanese girl with Waardenburg syndrome type 4C and Kallmann syndrome.

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

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

Afiliação

Hamada J; Department of Pediatrics, Ehime University Graduate School of Medicine, Ehime, Japan.
Ochi F; Department of Pediatrics, Ehime University Graduate School of Medicine, Ehime, Japan.
Sei Y; Department of Pediatrics, Ehime University Graduate School of Medicine, Ehime, Japan.
Takemoto K; Department of Pediatrics, Ehime Prefectural Niihama Hospital, Ehime, Japan.
Hirai H; Department of Pediatrics, Ehime Prefectural Central Hospital, Ehime, Japan.
Honda M; Department of Pediatrics, Keio University School of Medicine, Tokyo, Japan.
Shibata H; Department of Pediatrics, Keio University School of Medicine, Tokyo, Japan.
Hasegawa T; Department of Pediatrics, Keio University School of Medicine, Tokyo, Japan.
Eguchi M; Department of Pediatrics, Ehime University Graduate School of Medicine, Ehime, Japan.

Hum Genome Var ; 7: 30, 2020.

Article em En | MEDLINE | ID: mdl-33082981

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.

Palavras-chave

Disease genetics; Hypogonadism

Texto completo: 1 Base de dados: MEDLINE Idioma: En Ano de publicação: 2020 Tipo de documento: Article