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Free keywords:
Carrier Proteins/biosynthesis/*genetics; Chromosomes, Human, X/chemistry; DNA Helicases/biosynthesis/*genetics; Female; Genes, X-Linked; Genetic Association Studies; Genetic Testing; High-Throughput Nucleotide Sequencing; Humans; Hybridization, Genetic; Male; Mental Retardation, X-Linked/*genetics; Nerve Tissue Proteins/biosynthesis/*genetics; Nuclear Proteins/biosynthesis/*genetics; Pedigree; Plasma Membrane Neurotransmitter Transport Proteins/biosynthesis/*genetics; *Polymorphism, Single Nucleotide; Reverse Transcriptase Polymerase Chain Reaction
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.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.
