X-Linked Alpha Thalassemia Family Support Network X-Linked Alpha Thalassemia Family Support Network
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X-Linked Mental Retardation Group

This group, headed by Richard Gibbons, has a particular interest in a form of syndromal mental retardation known as X-Linked alpha thalassemia mental retardation (ATR-X) syndrome. It is characterized by severe learning difficulties, a characteristic facial appearance, abnormalities of genital development including male pseudohermaphroditism and alpha thalassemia. The underlying gene, ATRX, has been identified and belongs to a sub-family of DNA-dependant ATPases and putative helicases. Memebers of this family appear to be involved in a wide range of cellular functions but a common thread is their ability to remodel chromatin. The ATRX gene product is thought to be involved in the regulation of gene expression since mutations give rise to alpha thalassemia via the down regulation of alpha globin gene expression.

For further information, contact Dr. Richard Gibbons at the following link.

Dr. Richard Gibbons

Email: atr-x_family@mailcity.com