Genitopatellar syndrome: the first reported case in Japan

Genitopatellar syndrome (GPS) is mainly characterized by an absence of patellae, congenital flexion contractures of the lower limbs, psychomotor retardation, and anomalies of the external genitalia and kidneys. We report an 18-year-old female with a novel heterozygous truncating mutation in exon 17...

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Autores principales: Okano, Satomi, Miyamoto, Akie, Fukuda, Ikue, Tanaka, Hajime, Hata, Kenichiro, Kaname, Tadashi, Matsubara, Yoichi, Makita, Yoshio
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2018
Materias:
Data Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5972145/
https://www.ncbi.nlm.nih.gov/pubmed/29899993
http://dx.doi.org/10.1038/s41439-018-0010-1
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author Okano, Satomi
Miyamoto, Akie
Fukuda, Ikue
Tanaka, Hajime
Hata, Kenichiro
Kaname, Tadashi
Matsubara, Yoichi
Makita, Yoshio
author_facet Okano, Satomi
Miyamoto, Akie
Fukuda, Ikue
Tanaka, Hajime
Hata, Kenichiro
Kaname, Tadashi
Matsubara, Yoichi
Makita, Yoshio
author_sort Okano, Satomi
collection PubMed
description Genitopatellar syndrome (GPS) is mainly characterized by an absence of patellae, congenital flexion contractures of the lower limbs, psychomotor retardation, and anomalies of the external genitalia and kidneys. We report an 18-year-old female with a novel heterozygous truncating mutation in exon 17 of the KAT6B gene [MC_000010.11:c.3603_3606 del, p.Arg1201fs]. This is the first report of typical GPS in a Japanese individual. The details of our findings may contribute to elucidating the mechanism underlying GPS-specific clinical features.
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spelling pubmed-59721452018-06-13 Genitopatellar syndrome: the first reported case in Japan Okano, Satomi Miyamoto, Akie Fukuda, Ikue Tanaka, Hajime Hata, Kenichiro Kaname, Tadashi Matsubara, Yoichi Makita, Yoshio Hum Genome Var Data Report Genitopatellar syndrome (GPS) is mainly characterized by an absence of patellae, congenital flexion contractures of the lower limbs, psychomotor retardation, and anomalies of the external genitalia and kidneys. We report an 18-year-old female with a novel heterozygous truncating mutation in exon 17 of the KAT6B gene [MC_000010.11:c.3603_3606 del, p.Arg1201fs]. This is the first report of typical GPS in a Japanese individual. The details of our findings may contribute to elucidating the mechanism underlying GPS-specific clinical features. Nature Publishing Group UK 2018-05-28 /pmc/articles/PMC5972145/ /pubmed/29899993 http://dx.doi.org/10.1038/s41439-018-0010-1 Text en © The Author(s) 2018 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
Okano, Satomi
Miyamoto, Akie
Fukuda, Ikue
Tanaka, Hajime
Hata, Kenichiro
Kaname, Tadashi
Matsubara, Yoichi
Makita, Yoshio
Genitopatellar syndrome: the first reported case in Japan
title Genitopatellar syndrome: the first reported case in Japan
title_full Genitopatellar syndrome: the first reported case in Japan
title_fullStr Genitopatellar syndrome: the first reported case in Japan
title_full_unstemmed Genitopatellar syndrome: the first reported case in Japan
title_short Genitopatellar syndrome: the first reported case in Japan
title_sort genitopatellar syndrome: the first reported case in japan
topic Data Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5972145/
https://www.ncbi.nlm.nih.gov/pubmed/29899993
http://dx.doi.org/10.1038/s41439-018-0010-1
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