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Clinical and molecular basis of the X‐linked α‐thalassemia and mental retardation syndrome (ATR‐X) |
Hématologie. Volume 9, Number 4, 283-90, Juillet 2003, Revue
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 Résumé
Article gratuit
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Author(s) : Carlos Cardoso, Catherine Badens, Marie‐Geneviève Mattei, Michel Fontés |
Summary : The main features of the ATR‐X syndrome are profound mental retardation, characteristic facial dysmorphism and α‐thalassemia. Although this latter feature is not always present, it led to the initial identification and description of this syndrome. The gene involved in this syndrome, designated
XNP (X‐linked nuclear protein), maps to Xq13.3 and codes for a "zinc finger helicase". Since its identification, more than 70 mutations have been described in 150 families but correlation between phenotype and genotype is not straight forward. The
XNP gene has been found to be responsible for other syndromes such as Juberg‐Marsidi syndrome, Carpenter‐Waziri syndrome, Holmes‐Gang syndrome, Smith‐Fineman‐Myers syndrome and a syndrome with mental retardation and spastic paraplegia. All these syndromes have in common severe mental retardation and characteristic facial dysmorphism. Functional studies of the XNP\\ATR‐X protein have reveal‐ed a nuclear localization and DNA binding properties. Moreover, it is suggested that the XNP protein could be a component of the pericentromeric heterochromatin given its capacity to interact with some of the proteins involved in the chromatin remodeling such as EZH2, HP1α, β and γ. |
Keywords : XNP
, ATR‐X syndrome, mental retardation, α‐thalassemia, chromatin structure |
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