ATR-X syndrome

Definition:

X-linked alpha-thalassemia/mental retardation syndrome (ATR-X syndrome) is a rare syndromic form of X-linked mental retardation. It is characterized by severe mental retardation in males, characteristic facial appearance, alpha thalassaemia, genital anomalies, skeletal abnormalities, and characteristic posture and/or behavior. ATR-X syndrome is caused by a mutation in the ATRX gene, a critical factor involved in heterochromatin formation at mammalian centromeres and telomeres.

References:

[1]. Bernard Thienpont, et al. Partial duplications of the ATRX gene cause the ATR-X syndrome. Eur J Hum Genet. 2007 Oct;15(10):1094-7. [Content Brief]

[2]. Rabindranath De La Fuente, et al. Role of ATRX in chromatin structure and function: implications for chromosome instability and human disease. Reproduction. 2011 Aug;142(2):221-34. [Content Brief]

[3]. Takahito Wada, et al. Non-skewed X-inactivation may cause mental retardation in a female carrier of X-linked alpha-thalassemia/mental retardation syndrome (ATR-X): X-inactivation study of nine female carriers of ATR-X. Am J Med Genet A. 2005 Sep 15;138(1):18-20. [Content Brief]

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