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Two Novel Variants in the ATRX Gene Associated with Variable Phenotypes
Joint Authors
Hettiarachchi, D.
Pathirana, B. A. P. S.
Kumarasiri, P. J.
Dissanayake, Vajira H. W.
Source
Issue
Vol. 2019, Issue 2019 (31 Dec. 2019), pp.1-5, 5 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2019-11-06
Country of Publication
Egypt
No. of Pages
5
Main Subjects
Abstract EN
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.
American Psychological Association (APA)
Hettiarachchi, D.& Pathirana, B. A. P. S.& Kumarasiri, P. J.& Dissanayake, Vajira H. W.. 2019. Two Novel Variants in the ATRX Gene Associated with Variable Phenotypes. Case Reports in Genetics،Vol. 2019, no. 2019, pp.1-5.
https://search.emarefa.net/detail/BIM-1136010
Modern Language Association (MLA)
Hettiarachchi, D.…[et al.]. Two Novel Variants in the ATRX Gene Associated with Variable Phenotypes. Case Reports in Genetics No. 2019 (2019), pp.1-5.
https://search.emarefa.net/detail/BIM-1136010
American Medical Association (AMA)
Hettiarachchi, D.& Pathirana, B. A. P. S.& Kumarasiri, P. J.& Dissanayake, Vajira H. W.. Two Novel Variants in the ATRX Gene Associated with Variable Phenotypes. Case Reports in Genetics. 2019. Vol. 2019, no. 2019, pp.1-5.
https://search.emarefa.net/detail/BIM-1136010
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-1136010