Abstract
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 α-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 α-thalassemia, that causes a proline to serine transition in the helicase II domain.
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Acknowledgements
We thank the family members for their cooperation. We would like to thank D. Lena for discussing hematological examinations and M. Mitchell for critical reading of the manuscript. This work was financially supported by the Groupement d’Etudes et de Recherches sur les Génomes (GREG).
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Villard, L., Lacombe, D. & Fontés, M. A Point Mutation in the XNP Gene, Associated with an ATR-X Phenotype without α-Thalassemia. Eur J Hum Genet 4, 316–320 (1996). https://doi.org/10.1159/000472225
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DOI: https://doi.org/10.1159/000472225
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