TY - JOUR
T1 - Hybridisation-based resequencing of 17 X-linked intellectual disability genes in 135 patients reveals novel mutations in ATRX, SLC6A8 and PQBP1
AU - Jensen, Lars R.
AU - Chen, Wei
AU - Moser, Bettina
AU - Lipkowitz, Bettina
AU - Schroeder, Christopher
AU - Musante, Luciana
AU - Tzschach, Andreas
AU - Kalscheuer, Vera M.
AU - Meloni, Ilaria
AU - Raynaud, Martine
AU - Van Esch, Hilde
AU - Chelly, Jamel
AU - De Brouwer, Arjan P.M.
AU - Hackett, Anna
AU - Van Der Haar, Sigrun
AU - Henn, Wolfram
AU - Gecz, Jozef
AU - Riess, Olaf
AU - Bonin, Michael
AU - Reinhardt, Richard
AU - Ropers, Hans Hilger
AU - Kuss, Andreas W.
N1 - Funding Information:
We thank Sven Poths for technical assistance. This study was supported by the Max Planck Innovation Fund. Additional funding was provided to HHR by the German Federal Ministry of Education and Research (MRNET 01GS08161-2).
PY - 2011/6
Y1 - 2011/6
N2 - 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.
AB - 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.
KW - X-linked intellectual disability
KW - X-linked mental retardation
KW - array-based resequencing
KW - automated PCR
KW - mutation analysis
UR - https://www.scopus.com/pages/publications/79956308970
U2 - 10.1038/ejhg.2010.244
DO - 10.1038/ejhg.2010.244
M3 - Article
C2 - 21267006
AN - SCOPUS:79956308970
SN - 1018-4813
VL - 19
SP - 717
EP - 720
JO - European Journal of Human Genetics
JF - European Journal of Human Genetics
IS - 6
ER -