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Alpha thalassemia-mental retardation, X linked

Source: www.orpha.net
Topic: Thalassemia
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Sort Desciption: Abstract X-linked alpha thalassemia mental retardation (ATR-X) syndrome is associated with profound developmental delay, facial dysmorphism, genital abnormalities and alpha thalassemia. The learning difficulties are not progressive with time. ...

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Abstract X-linked alpha thalassemia mental retardation (ATR-X) syndrome is associated with profound developmental delay, facial dysmorphism, genital abnormalities and alpha thalassemia. The learning difficulties are not progressive with time. It is X-linked recessive and results from mutations in ATRX gene. ATRX protein is a member of the SNF2 family of ATPases and putative helicases, which are thought to have chromatin remodelling activity. Since alpha globin expression is down regulated in patients with ATRX mutations it may play a role in gene expression. It is a widely expressed protein, which is associated with heterochromatin. Mutations cause diverse changes in the pattern of DNA methylation at heterochromatic loci but it is not yet known whether this is responsible for the clinical phenotype. Keywords intellectual impairment, facial dysmorphism, genital abnormalities, ATRX gene Disease name and synonyms X-linked alpha thalassemia mental retardation (ATR-X) syndrome X-linked mental retardation-hypotonic face syndrome Allelic conditions: Juberg-Marsidi (Villard et al., 1996a), X-linked mental retardation with spastic paraplegia (Lossi et al., 1999), Carpenter-Waziri (Abidi et al., 1999), Holmes-Gang (Stevenson et al., 2000), and Smith-Fineman-Myers (Villard et al., 2000) syndromes. Diagnosis criteria Since the identification of the disease ...

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