ATRX (ATR-X, X-linked helicase II, XH2, X-linked nuclear protein gene, XNP) belongs to the SNF2 family of proteins, many of which have been demonstrated to have chromatin remodeling activity. ATRX gene spans about 300kb of genomic DNA and contains 36 exons. Mutations in the transcriptional regulator ATRX are associated with several X-linked mental retardation syndromes: (1) X-linked alpha-thalassemia/mental retardation syndrome (ATR-X) characterized by severe psychomotor retardation, facial dysmorphism, urogenital abnormalities, alpha-thalassemia, and hemoglobin H erythrocyte inclusions, an essential phenotypic trait
1; (2) Smith-Fineman-Myers syndrome (SFM) with clinical features including severe mental retardation, microcephaly, growth failure, facial anomalies and bilateral cryptorchidism
2; (3) Carpenter-Waziri syndrome (CWS) characterized by moderate mental retardation, short stature, brachydactyly with excessive skin creases, and widening of the knuckles
3; (4) Juberg-Marsidi syndrome (JM) characterized by severe mental retardation, growth failure, sensorineural deafness, microgenitalism and early death
4; and (5) alpha-thalassemia myelodysplasia syndrome (ATMDS) in which alpha-thalassemia occurs as an acquired abnormality in association with a multilineage myelodysplasia
5. Over 200 cases from 182 families have been identified with 113 different mutations
6.
To open a printable assay summary in a new window, click the link below.
ATRX Gene Mutation Analysis Assay Summary
(in portable document format (pdf) which requires Adobe® Acrobat® Reader™ to view or print; download latest version free)
Please submit the Test Request Form (TRF) and the Neuropsychiatric Patient Information Form when ordering this test.
References
1. Gibbons RJ, et al. Cell. 1995 Mar 24;80(6):837-45.
2. Villard L, et al. Am J Med Genet. 2000 Mar 6;91(1):83-5.
3. Abidi F, et al. Am J Med Genet. 1999 Jul 30;85(3):249-51.
4. Villard L, et al. Nat Genet. 1996 Apr;12(4):359-60.
5. Gibbons RJ, et al. Nat Genet. 2003 Aug;34(4):446-9.
6. Gibbons RJ, et al. Hum Mutat 2008; 29(6), 796–802.
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