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...
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| Format: | Article |
| Language: | English |
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Wiley
2019-01-01
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| Series: | Case Reports in Genetics |
| Online Access: | http://dx.doi.org/10.1155/2019/2687595 |
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| author | D. Hettiarachchi B. A. P. S. Pathirana P. J. Kumarasiri V. H. W. Dissanayake |
| author_facet | D. Hettiarachchi B. A. P. S. Pathirana P. J. Kumarasiri V. H. W. Dissanayake |
| author_sort | D. Hettiarachchi |
| collection | DOAJ |
| 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 | Article |
| id | doaj-art-97761bfb733c43078b45f7fdfe0dc443 |
| institution | Kabale University |
| issn | 2090-6544 2090-6552 |
| language | English |
| publishDate | 2019-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Case Reports in Genetics |
| spelling | doaj-art-97761bfb733c43078b45f7fdfe0dc4432025-02-03T06:01:26ZengWileyCase Reports in Genetics2090-65442090-65522019-01-01201910.1155/2019/26875952687595Two Novel Variants in the ATRX Gene Associated with Variable PhenotypesD. Hettiarachchi0B. A. P. S. Pathirana1P. J. Kumarasiri2V. H. W. Dissanayake3Human Genetics Unit, Faculty of Medicine, University of Colombo, Sri LankaHuman Genetics Unit, Faculty of Medicine, University of Colombo, Sri LankaHuman Genetics Unit, Faculty of Medicine, University of Colombo, Sri LankaHuman Genetics Unit, Faculty of Medicine, University of Colombo, Sri LankaThe 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.http://dx.doi.org/10.1155/2019/2687595 |
| spellingShingle | D. Hettiarachchi B. A. P. S. Pathirana P. J. Kumarasiri V. H. W. Dissanayake Two Novel Variants in the ATRX Gene Associated with Variable Phenotypes Case Reports in Genetics |
| 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 |
| url | http://dx.doi.org/10.1155/2019/2687595 |
| work_keys_str_mv | AT dhettiarachchi twonovelvariantsintheatrxgeneassociatedwithvariablephenotypes AT bapspathirana twonovelvariantsintheatrxgeneassociatedwithvariablephenotypes AT pjkumarasiri twonovelvariantsintheatrxgeneassociatedwithvariablephenotypes AT vhwdissanayake twonovelvariantsintheatrxgeneassociatedwithvariablephenotypes |