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Eur J Hum Genet. 1996;4(6):316-20.

A point mutation in the XNP gene, associated with an ATR-X phenotype without alpha-thalassemia.

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INSERM U406 Genétique Médicale et Développement, Faculté de Médecine de la Timone, Marseille, France.


We have previously reported the isolation of a gene from Xq13, coding for a putative regulator of transcription (XNP). It is a member of the helicase family, and has now been shown to be the gene involved in the X-linked alpha-thalassemia/mental retardation (ATR-X) syndrome. ATR-X mutations were only found in the 3'-part of the coding sequence, which includes the helicase domains. However, no ATR-X mutation has yet been found in one of the seven conserved helicase domains. In this paper, we report a mutation in XNP, segregating in a family presenting an "ATR-X' phenotype without alpha-thalassemia, that causes a proline to serine transition in the helicase II domain.

[Indexed for MEDLINE]

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