Hybridization-based resequencing of 17 X-linked intellectual disability genes in 135 patients reveals novel mutations in ATRX, SLC6A8 and PQBP1

Andreas Walter Kuss (1) , Lars Riff Jensen (1) , Wei Chen (1) , Bettina Moser (1) , Bettina Lipkowitz (1) , Luciana Musante (1) , Andreas Tzschach (1) , Hans Hilger Ropers (1) , Christopher Schroeder (1) , Ilaria Meloni (1) , Martine Raynaud (1) , Hilde van Esch (1) , Jamel Chelly (1) , Arjan Pm de Brouwer (1) , Anna Hackett (1) , Sigrun van Der Haar (1) , Wolfram Henn (1) , Jozef Gecz (1) , Olaf Riess (1) , Michael Bonin (1) , Richard Reinhardt (1) , Vera M. Kalscheuer (1)

1 Human Molecular Genetics

X-linked intellectual disability (XLID) also known as X-linked mental retardation is a highly genetically heterogeneous condition for which mutations in >90 different genes have been identified. In this study we used a custom-made sequencing array based on the Affymetrix 50k platform for mutation screening in 17 known XLID genes in patients from 135 families and found eight single nucleotide changes that were absent in controls. For four mutations affecting ATRX (p.1761M>T), PQBP1 (p.155R>X) and SLC6A8 (p.390P>L and p.477S>L) we provide evidence for a functional involvement of these changes in the aetiology of intellectual disability.

Mots clés: X-linked mental retardation; hybridisation based resequencing; mutation analysis

Andreas Walter Kuss, Lars Riff Jensen, Wei Chen, Bettina Moser, Bettina Lipkowitz, et al.. Hybridization-based resequencing of 17 X-linked intellectual disability genes in 135 patients reveals novel mutations in ATRX, SLC6A8 and PQBP1. European Journal of Human Genetics, 2011, ⟨10.1038/ejhg.2010.244⟩. ⟨hal-00611252⟩