Syndromic disorder of sex development due to a novel hemizygous mutation in the carboxyl-terminal domain of ATRX

Alpha-thalassemia/mental retardation syndrome X-linked (ATRX; OMIM #301040), which is caused by mutations in the ATRX gene, is characterized by alpha-thalassemia, distinct dysmorphic facies, psychomotor development delay and genital abnormalities. Here, we describe a neonatal case of syndromic disor...

Descripción completa

Detalles Bibliográficos
Autores principales: Takagi, Masaki, Yagi, Hiroko, Fukuzawa, Ryuji, Narumi, Satoshi, Hasegawa, Tomonobu
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group 2017
Materias:
Data Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5389957/
https://www.ncbi.nlm.nih.gov/pubmed/28446958
http://dx.doi.org/10.1038/hgv.2017.12
_version_ 1782521361676107776
author Takagi, Masaki
Yagi, Hiroko
Fukuzawa, Ryuji
Narumi, Satoshi
Hasegawa, Tomonobu
author_facet Takagi, Masaki
Yagi, Hiroko
Fukuzawa, Ryuji
Narumi, Satoshi
Hasegawa, Tomonobu
author_sort Takagi, Masaki
collection PubMed
description Alpha-thalassemia/mental retardation syndrome X-linked (ATRX; OMIM #301040), which is caused by mutations in the ATRX gene, is characterized by alpha-thalassemia, distinct dysmorphic facies, psychomotor development delay and genital abnormalities. Here, we describe a neonatal case of syndromic disorder of sex development, harboring a novel hemizygous mutation, p.Asp2352fs*1 in the carboxyl-terminal domain of ATRX. Our study provides additional evidence that deletion of the carboxyl terminus of ATRX is associated with severe genital anomalies.
format Online
Article
Text
id pubmed-5389957
institution National Center for Biotechnology Information
language English
publishDate 2017
publisher Nature Publishing Group
record_format MEDLINE/PubMed
spelling pubmed-53899572017-04-26 Syndromic disorder of sex development due to a novel hemizygous mutation in the carboxyl-terminal domain of ATRX Takagi, Masaki Yagi, Hiroko Fukuzawa, Ryuji Narumi, Satoshi Hasegawa, Tomonobu Hum Genome Var Data Report Alpha-thalassemia/mental retardation syndrome X-linked (ATRX; OMIM #301040), which is caused by mutations in the ATRX gene, is characterized by alpha-thalassemia, distinct dysmorphic facies, psychomotor development delay and genital abnormalities. Here, we describe a neonatal case of syndromic disorder of sex development, harboring a novel hemizygous mutation, p.Asp2352fs*1 in the carboxyl-terminal domain of ATRX. Our study provides additional evidence that deletion of the carboxyl terminus of ATRX is associated with severe genital anomalies. Nature Publishing Group 2017-04-13 /pmc/articles/PMC5389957/ /pubmed/28446958 http://dx.doi.org/10.1038/hgv.2017.12 Text en Copyright © 2017 The Author(s) http://creativecommons.org/licenses/by-nc-nd/4.0/ This work is licensed under a Creative Commons Attribution-NonCommercial-NoDerivs 4.0 International 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-nd/4.0/
spellingShingle Data Report
Takagi, Masaki
Yagi, Hiroko
Fukuzawa, Ryuji
Narumi, Satoshi
Hasegawa, Tomonobu
Syndromic disorder of sex development due to a novel hemizygous mutation in the carboxyl-terminal domain of ATRX
title Syndromic disorder of sex development due to a novel hemizygous mutation in the carboxyl-terminal domain of ATRX
title_full Syndromic disorder of sex development due to a novel hemizygous mutation in the carboxyl-terminal domain of ATRX
title_fullStr Syndromic disorder of sex development due to a novel hemizygous mutation in the carboxyl-terminal domain of ATRX
title_full_unstemmed Syndromic disorder of sex development due to a novel hemizygous mutation in the carboxyl-terminal domain of ATRX
title_short Syndromic disorder of sex development due to a novel hemizygous mutation in the carboxyl-terminal domain of ATRX
title_sort syndromic disorder of sex development due to a novel hemizygous mutation in the carboxyl-terminal domain of atrx
topic Data Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5389957/
https://www.ncbi.nlm.nih.gov/pubmed/28446958
http://dx.doi.org/10.1038/hgv.2017.12
work_keys_str_mv AT takagimasaki syndromicdisorderofsexdevelopmentduetoanovelhemizygousmutationinthecarboxylterminaldomainofatrx
AT yagihiroko syndromicdisorderofsexdevelopmentduetoanovelhemizygousmutationinthecarboxylterminaldomainofatrx
AT fukuzawaryuji syndromicdisorderofsexdevelopmentduetoanovelhemizygousmutationinthecarboxylterminaldomainofatrx
AT narumisatoshi syndromicdisorderofsexdevelopmentduetoanovelhemizygousmutationinthecarboxylterminaldomainofatrx
AT hasegawatomonobu syndromicdisorderofsexdevelopmentduetoanovelhemizygousmutationinthecarboxylterminaldomainofatrx

Ejemplares similares