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.

Details

Title
A novel SOX10 variant in a Japanese girl with Waardenburg syndrome type 4C and Kallmann syndrome
Author
Hamada Junpei 1   VIAFID ORCID Logo  ; Ochi Fumihiro 1 ; Sei Yuka 1 ; Takemoto Koji 2 ; Hirai Hiroki 3 ; Honda Misa 4 ; Shibata Hironori 4 ; Hasegawa Tomonobu 4 ; Eguchi Mariko 1   VIAFID ORCID Logo 

1  Ehime University Graduate School of Medicine, Department of Pediatrics, Ehime, Japan (GRID:grid.255464.4) (ISNI:0000 0001 1011 3808) 
2  Ehime Prefectural Niihama Hospital, Department of Pediatrics, Ehime, Japan (GRID:grid.255464.4) 
3  Ehime Prefectural Central Hospital, Department of Pediatrics, Ehime, Japan (GRID:grid.414413.7) (ISNI:0000 0004 1772 7425) 
4  Keio University School of Medicine, Department of Pediatrics, Tokyo, Japan (GRID:grid.26091.3c) (ISNI:0000 0004 1936 9959) 
Publication year
2020
Publication date
2020
Publisher
Springer Nature B.V.
e-ISSN
2054345X
Source type
Scholarly Journal
Language of publication
English
DOI
https://doi.org/10.1038/s41439-020-00118-6
ProQuest document ID
2476251050
Copyright
© The Author(s) 2020. This work is published under http://creativecommons.org/licenses/by/4.0/ (the “License”). Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License.