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Two Novel Variants in the ATRX Gene Associated with Variable Phenotypes
The X-linked alpha-thalassemia mental retardation (ATR-X) syndrome is a rare genetic condition caused by mutations in the X‐encoded gene ATRX. Here we describe two unrelated patients of Sri Lankan origin with novel missense variants in the ATRX gene: c.839C>T|p.Cys280Tyr and c.5369C>T|p.Ala179...
Autores principales: | , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Hindawi
2019
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6875291/ https://www.ncbi.nlm.nih.gov/pubmed/31781420 http://dx.doi.org/10.1155/2019/2687595 |
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author | Hettiarachchi, D. Pathirana, B. A. P. S. Kumarasiri, P. J. Dissanayake, V. H. W. |
author_facet | Hettiarachchi, D. Pathirana, B. A. P. S. Kumarasiri, P. J. Dissanayake, V. H. W. |
author_sort | Hettiarachchi, D. |
collection | PubMed |
description | The X-linked alpha-thalassemia mental retardation (ATR-X) syndrome is a rare genetic condition caused by mutations in the X‐encoded gene ATRX. Here we describe two unrelated patients of Sri Lankan origin with novel missense variants in the ATRX gene: c.839C>T|p.Cys280Tyr and c.5369C>T|p.Ala1790Val. These two novel variants were associated with variable phenotypes which clinically resembled X-linked mental retardation-hypotonic facies syndrome and Smith-Fineman-Myers syndrome respectively. These cases expand the clinical spectrum of ATR-X syndrome and open new opportunities for the molecular diagnosis of ATRX mutations in male patients with severe global developmental delay and intellectual disabilities. |
format | Online Article Text |
id | pubmed-6875291 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2019 |
publisher | Hindawi |
record_format | MEDLINE/PubMed |
spelling | pubmed-68752912019-11-28 Two Novel Variants in the ATRX Gene Associated with Variable Phenotypes Hettiarachchi, D. Pathirana, B. A. P. S. Kumarasiri, P. J. Dissanayake, V. H. W. Case Rep Genet Case Report The X-linked alpha-thalassemia mental retardation (ATR-X) syndrome is a rare genetic condition caused by mutations in the X‐encoded gene ATRX. Here we describe two unrelated patients of Sri Lankan origin with novel missense variants in the ATRX gene: c.839C>T|p.Cys280Tyr and c.5369C>T|p.Ala1790Val. These two novel variants were associated with variable phenotypes which clinically resembled X-linked mental retardation-hypotonic facies syndrome and Smith-Fineman-Myers syndrome respectively. These cases expand the clinical spectrum of ATR-X syndrome and open new opportunities for the molecular diagnosis of ATRX mutations in male patients with severe global developmental delay and intellectual disabilities. Hindawi 2019-11-06 /pmc/articles/PMC6875291/ /pubmed/31781420 http://dx.doi.org/10.1155/2019/2687595 Text en Copyright © 2019 D. Hettiarachchi et al. http://creativecommons.org/licenses/by/4.0/ This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. |
spellingShingle | Case Report Hettiarachchi, D. Pathirana, B. A. P. S. Kumarasiri, P. J. Dissanayake, V. H. W. Two Novel Variants in the ATRX Gene Associated with Variable Phenotypes |
title | Two Novel Variants in the ATRX Gene Associated with Variable Phenotypes |
title_full | Two Novel Variants in the ATRX Gene Associated with Variable Phenotypes |
title_fullStr | Two Novel Variants in the ATRX Gene Associated with Variable Phenotypes |
title_full_unstemmed | Two Novel Variants in the ATRX Gene Associated with Variable Phenotypes |
title_short | Two Novel Variants in the ATRX Gene Associated with Variable Phenotypes |
title_sort | two novel variants in the atrx gene associated with variable phenotypes |
topic | Case Report |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6875291/ https://www.ncbi.nlm.nih.gov/pubmed/31781420 http://dx.doi.org/10.1155/2019/2687595 |
work_keys_str_mv | AT hettiarachchid twonovelvariantsintheatrxgeneassociatedwithvariablephenotypes AT pathiranabaps twonovelvariantsintheatrxgeneassociatedwithvariablephenotypes AT kumarasiripj twonovelvariantsintheatrxgeneassociatedwithvariablephenotypes AT dissanayakevhw twonovelvariantsintheatrxgeneassociatedwithvariablephenotypes |