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

Lars R. Jensen, Wei Chen, Bettina Moser, Bettina Lipkowitz, Christopher Schroeder, Luciana Musante, Andreas Tzschach, Vera M. Kalscheuer, Ilaria Meloni, Martine Raynaud, Hilde Van Esch, Jamel Chelly, Arjan P.M. De Brouwer, Anna Hackett, Sigrun Van Der Haar, Wolfram Henn, Jozef Gecz, Olaf Riess, Michael Bonin, Richard ReinhardtHans Hilger Ropers, Andreas W. Kuss

Research output: Contribution to journalArticle

14 Citations (Scopus)

Abstract

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.1761MT), PQBP1 (p.155RX) and SLC6A8 (p.390PL and p.477SL), we provide evidence for a functional involvement of these changes in the aetiology of intellectual disability.

Original languageEnglish
Pages (from-to)717-720
Number of pages4
JournalEuropean Journal of Human Genetics
Volume19
Issue number6
DOIs
Publication statusPublished - 1 Jun 2011
Externally publishedYes

Keywords

  • X-linked intellectual disability
  • X-linked mental retardation
  • array-based resequencing
  • automated PCR
  • mutation analysis

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

Cite this