A novel SOX10 variant in a Japanese girl with Waardenburg syndrome type 4C and Kallmann syndrome.
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ABSTRACT:
SUBMITTER: Hamada J
PROVIDER: S-EPMC7522263 | biostudies-literature | 2020
REPOSITORIES: biostudies-literature
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A novel <i>SOX10</i> variant in a Japanese girl with Waardenburg syndrome type 4C and Kallmann syndrome.
Hamada Junpei J Ochi Fumihiro F Sei Yuka Y Takemoto Koji K Hirai Hiroki H Honda Misa M Shibata Hironori H Hasegawa Tomonobu T Eguchi Mariko M
Human genome variation 20200928
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 <i>SOX10</i> variant, c.124delC, p.Leu42Cysfs*67. ...[more]
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