A patient with autosomal recessive Alport syndrome due to segmental maternal isodisomy

We report the case of a 22-year-old male with autosomal recessive Alport syndrome. Molecular analysis showed that this patient has a homozygous missense (NM_000091.4:c.3266G>A) Gly1089Asp mutation in the COL4A3 gene. The proband inherited the mutation from his heterozygous carrier mother, whereas...

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Autores principales: Fu, Xue J, Morisada, Naoya, Hashimoto, Fusako, Taniguchi-Ikeda, Mariko, Hashimura, Yuya, Ohtsubo, Hiromi, Ninchoji, Takeshi, Kaito, Hiroshi, Nozu, Kandai, Takahashi, Eihiko, Nakanishi, Koichi, Kurahashi, Hiroki, Iijima, Kazumoto
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group 2014
Materias:
Data Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4785521/
https://www.ncbi.nlm.nih.gov/pubmed/27081500
http://dx.doi.org/10.1038/hgv.2014.6
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author Fu, Xue J
Morisada, Naoya
Hashimoto, Fusako
Taniguchi-Ikeda, Mariko
Hashimura, Yuya
Ohtsubo, Hiromi
Ninchoji, Takeshi
Kaito, Hiroshi
Nozu, Kandai
Takahashi, Eihiko
Nakanishi, Koichi
Kurahashi, Hiroki
Iijima, Kazumoto
author_facet Fu, Xue J
Morisada, Naoya
Hashimoto, Fusako
Taniguchi-Ikeda, Mariko
Hashimura, Yuya
Ohtsubo, Hiromi
Ninchoji, Takeshi
Kaito, Hiroshi
Nozu, Kandai
Takahashi, Eihiko
Nakanishi, Koichi
Kurahashi, Hiroki
Iijima, Kazumoto
author_sort Fu, Xue J
collection PubMed
description We report the case of a 22-year-old male with autosomal recessive Alport syndrome. Molecular analysis showed that this patient has a homozygous missense (NM_000091.4:c.3266G>A) Gly1089Asp mutation in the COL4A3 gene. The proband inherited the mutation from his heterozygous carrier mother, whereas the father carried only wild-type alleles. We performed comparative genome hybridization and single-nucleotide polymorphism microarray analyses and confirmed that there was partial maternal isodisomy.
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spelling pubmed-47855212016-04-14 A patient with autosomal recessive Alport syndrome due to segmental maternal isodisomy Fu, Xue J Morisada, Naoya Hashimoto, Fusako Taniguchi-Ikeda, Mariko Hashimura, Yuya Ohtsubo, Hiromi Ninchoji, Takeshi Kaito, Hiroshi Nozu, Kandai Takahashi, Eihiko Nakanishi, Koichi Kurahashi, Hiroki Iijima, Kazumoto Hum Genome Var Data Report We report the case of a 22-year-old male with autosomal recessive Alport syndrome. Molecular analysis showed that this patient has a homozygous missense (NM_000091.4:c.3266G>A) Gly1089Asp mutation in the COL4A3 gene. The proband inherited the mutation from his heterozygous carrier mother, whereas the father carried only wild-type alleles. We performed comparative genome hybridization and single-nucleotide polymorphism microarray analyses and confirmed that there was partial maternal isodisomy. Nature Publishing Group 2014-08-07 /pmc/articles/PMC4785521/ /pubmed/27081500 http://dx.doi.org/10.1038/hgv.2014.6 Text en Copyright © 2014 The Japan Society of Human Genetics http://creativecommons.org/licenses/by-nc-sa/3.0/ This work is licensed under a Creative Commons Attribution-NonCommercial-ShareAlike 3.0 Unported License. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in the credit line; if the material is not included under the Creative Commons license, users will need to obtain permission from the license holder to reproduce the material. To view a copy of this license, visit http://creativecommons.org/licenses/by-nc-sa/3.0/
spellingShingle Data Report
Fu, Xue J
Morisada, Naoya
Hashimoto, Fusako
Taniguchi-Ikeda, Mariko
Hashimura, Yuya
Ohtsubo, Hiromi
Ninchoji, Takeshi
Kaito, Hiroshi
Nozu, Kandai
Takahashi, Eihiko
Nakanishi, Koichi
Kurahashi, Hiroki
Iijima, Kazumoto
A patient with autosomal recessive Alport syndrome due to segmental maternal isodisomy
title A patient with autosomal recessive Alport syndrome due to segmental maternal isodisomy
title_full A patient with autosomal recessive Alport syndrome due to segmental maternal isodisomy
title_fullStr A patient with autosomal recessive Alport syndrome due to segmental maternal isodisomy
title_full_unstemmed A patient with autosomal recessive Alport syndrome due to segmental maternal isodisomy
title_short A patient with autosomal recessive Alport syndrome due to segmental maternal isodisomy
title_sort patient with autosomal recessive alport syndrome due to segmental maternal isodisomy
topic Data Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4785521/
https://www.ncbi.nlm.nih.gov/pubmed/27081500
http://dx.doi.org/10.1038/hgv.2014.6
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