A novel compound heterozygous mutation in TTC8 identified in a Japanese patient

Bardet–Biedl syndrome (BBS), characterized by rod-cone dystrophy, postaxial polydactyly, central obesity, hypogonadism, renal abnormalities, and mental retardation, is a rare autosomal recessive disorder. To date, 21 causative genes have been reported. Here we describe a Japanese BBS patient with a...

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Autores principales: Sato, Shigeru, Morimoto, Takeshi, Hotta, Kikuko, Fujikado, Takashi, Nishida, Kohji
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2019
Materias:
Data Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6418288/
https://www.ncbi.nlm.nih.gov/pubmed/30886724
http://dx.doi.org/10.1038/s41439-019-0045-y
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author Sato, Shigeru
Morimoto, Takeshi
Hotta, Kikuko
Fujikado, Takashi
Nishida, Kohji
author_facet Sato, Shigeru
Morimoto, Takeshi
Hotta, Kikuko
Fujikado, Takashi
Nishida, Kohji
author_sort Sato, Shigeru
collection PubMed
description Bardet–Biedl syndrome (BBS), characterized by rod-cone dystrophy, postaxial polydactyly, central obesity, hypogonadism, renal abnormalities, and mental retardation, is a rare autosomal recessive disorder. To date, 21 causative genes have been reported. Here we describe a Japanese BBS patient with a novel compound heterozygous mutation in TTC8. To the best of our knowledge, this is the first description of a BBS patient with a mutation in the TTC8 gene in Japan.
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spelling pubmed-64182882019-03-18 A novel compound heterozygous mutation in TTC8 identified in a Japanese patient Sato, Shigeru Morimoto, Takeshi Hotta, Kikuko Fujikado, Takashi Nishida, Kohji Hum Genome Var Data Report Bardet–Biedl syndrome (BBS), characterized by rod-cone dystrophy, postaxial polydactyly, central obesity, hypogonadism, renal abnormalities, and mental retardation, is a rare autosomal recessive disorder. To date, 21 causative genes have been reported. Here we describe a Japanese BBS patient with a novel compound heterozygous mutation in TTC8. To the best of our knowledge, this is the first description of a BBS patient with a mutation in the TTC8 gene in Japan. Nature Publishing Group UK 2019-03-12 /pmc/articles/PMC6418288/ /pubmed/30886724 http://dx.doi.org/10.1038/s41439-019-0045-y Text en © The Author(s) 2019 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
Sato, Shigeru
Morimoto, Takeshi
Hotta, Kikuko
Fujikado, Takashi
Nishida, Kohji
A novel compound heterozygous mutation in TTC8 identified in a Japanese patient
title A novel compound heterozygous mutation in TTC8 identified in a Japanese patient
title_full A novel compound heterozygous mutation in TTC8 identified in a Japanese patient
title_fullStr A novel compound heterozygous mutation in TTC8 identified in a Japanese patient
title_full_unstemmed A novel compound heterozygous mutation in TTC8 identified in a Japanese patient
title_short A novel compound heterozygous mutation in TTC8 identified in a Japanese patient
title_sort novel compound heterozygous mutation in ttc8 identified in a japanese patient
topic Data Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6418288/
https://www.ncbi.nlm.nih.gov/pubmed/30886724
http://dx.doi.org/10.1038/s41439-019-0045-y
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