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

Research output: Contribution to journalArticlepeer-review

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 languageEnglish
Article number30
JournalHuman Genome Variation
Volume7
Issue number1
DOIs
Publication statusPublished - 2020 Dec 1

ASJC Scopus subject areas

  • Biochemistry
  • Molecular Biology
  • Genetics

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