Two Novel Variants in the ATRX Gene Associated with Variable Phenotypes. (6th November 2019)

• Record Type: Journal Article
• Authors: Hettiarachchi, D.; Pathirana, B. A. P. S.; Kumarasiri, P. J.; Dissanayake, V. H. W.
• Other Names: Cotter Philip D. Academic Editor.
• Is Part Of: Case reports in genetics. Volume 2019(2019)
• Publication Date: 2019-11-06
• Subjects: Genetics -- Periodicals; Genetics -- Case studies -- Periodicals; Genetics; Genetic Phenomena; Genetics; Periodicals; Case studies; Periodicals; Case Reports; Fulltext; Internet Resources; Periodicals; 576.5
• DOI: 10.1155/2019/2687595
• Languages: English
• ISSNs: 2090-6544

Abstract

Abstract : 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.