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.
Category
Congenital malformation
Brite
Human diseases in ICD-11 classification [BR:br08403]
03 Diseases of the blood or blood-forming organs
Anaemias or other erythrocyte disorders
3A50 Thalassaemias
H01752 ATR-X syndrome
Pathway-based classification of diseases [BR:br08402]
Cellular processes
nt06512 Chromosome cohesion and segregation
H01752 ATR-X syndrome
The X-linked mental retardation-hypotonic facies syndrome (MRXHF1) is also caused by mutation in the ATRX gene. MRXHF1 comprises several syndromes previously reported separately. These include Juberg-Marsidi, Carpenter-Waziri, Holmes-Gang, and Smith-Fineman-Myers syndromes. See also H00228 Thalassemia and H00577 Syndromic X-linked mental retardation.
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.
Gibbons RJ, Pellagatti A, Garrick D, Wood WG, Malik N, Ayyub H, Langford C, Boultwood J, Wainscoat JS, Higgs DR
Title
Identification of acquired somatic mutations in the gene encoding chromatin-remodeling factor ATRX in the alpha-thalassemia myelodysplasia syndrome (ATMDS).
