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

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...

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Autores principales: Hamada, Junpei, Ochi, Fumihiro, Sei, Yuka, Takemoto, Koji, Hirai, Hiroki, Honda, Misa, Shibata, Hironori, Hasegawa, Tomonobu, Eguchi, Mariko
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2020
Materias:
Data Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7522263/
https://www.ncbi.nlm.nih.gov/pubmed/33082981
http://dx.doi.org/10.1038/s41439-020-00118-6
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author Hamada, Junpei
Ochi, Fumihiro
Sei, Yuka
Takemoto, Koji
Hirai, Hiroki
Honda, Misa
Shibata, Hironori
Hasegawa, Tomonobu
Eguchi, Mariko
author_facet Hamada, Junpei
Ochi, Fumihiro
Sei, Yuka
Takemoto, Koji
Hirai, Hiroki
Honda, Misa
Shibata, Hironori
Hasegawa, Tomonobu
Eguchi, Mariko
author_sort Hamada, Junpei
collection PubMed
description 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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spelling pubmed-75222632020-10-19 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 Hum Genome Var Data Report 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. Nature Publishing Group UK 2020-09-28 /pmc/articles/PMC7522263/ /pubmed/33082981 http://dx.doi.org/10.1038/s41439-020-00118-6 Text en © The Author(s) 2020 Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons license and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/.
spellingShingle Data Report
Hamada, Junpei
Ochi, Fumihiro
Sei, Yuka
Takemoto, Koji
Hirai, Hiroki
Honda, Misa
Shibata, Hironori
Hasegawa, Tomonobu
Eguchi, Mariko
A novel SOX10 variant in a Japanese girl with Waardenburg syndrome type 4C and Kallmann syndrome
title A novel SOX10 variant in a Japanese girl with Waardenburg syndrome type 4C and Kallmann syndrome
title_full A novel SOX10 variant in a Japanese girl with Waardenburg syndrome type 4C and Kallmann syndrome
title_fullStr A novel SOX10 variant in a Japanese girl with Waardenburg syndrome type 4C and Kallmann syndrome
title_full_unstemmed A novel SOX10 variant in a Japanese girl with Waardenburg syndrome type 4C and Kallmann syndrome
title_short A novel SOX10 variant in a Japanese girl with Waardenburg syndrome type 4C and Kallmann syndrome
title_sort novel sox10 variant in a japanese girl with waardenburg syndrome type 4c and kallmann syndrome
topic Data Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7522263/
https://www.ncbi.nlm.nih.gov/pubmed/33082981
http://dx.doi.org/10.1038/s41439-020-00118-6
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