title: Autozygosity mapping of a large consanguineous Pakistani family reveals a novel non-syndromic autosomal recessive mental retardation locus on 11p15-tel.
abstract: Autosomal recessive inherited mental retardation is an extremely heterogeneous disease and accounts for approximately 25% of all non-syndromic mental retardation cases. Autozygosity mapping of a large consanguineous Pakistani family revealed a novel locus for non-syndromic autosomal recessive mental retardation (NS-ARMR). The affected individuals showed low IQ and cognitive impairment without any neurological, skeletal, and biochemical abnormalities. All known NS-ARMR genes were excluded by STS markers, so autozygosity mapping by microarray single-nucleotide polymorphism (SNP) analysis were done in all sampled individuals in the family. The nuclear central loop in the five generation family showed homozygosity for a 6-Mb telomeric region on 11p15, whereas all other linkage regions were excluded by calculation of logarithm of odds (LOD) for the SNP microarray data. A maximum LOD score of Z = 3.31 was calculated for the mapped region. These results suggest a novel genetic locus, MRT17, for NS-ARMR.
authors.affiliation: Human Molecular Genetics Laboratory, Health Biotechnology Division, National Institute for Biotechnology & Genetic Engineering, Faisalabad, Pakistan.
authors.forename: Shoaib ur
authors.initials: Su
authors.lastname: Rehman
authors.forename: Shahid Mahmood
authors.initials: SM
authors.lastname: Baig
authors.forename: Hans
authors.initials: H
authors.lastname: Eiberg
authors.forename: Sijad ur
authors.initials: Su
authors.lastname: Rehman
authors.forename: Ilyas
authors.initials: I
authors.lastname: Ahmad
authors.forename: Naveed Altaf
authors.initials: NA
authors.lastname: Malik
authors.forename: Niels
authors.initials: N
authors.lastname: Tommerup
authors.forename: Lars
authors.initials: L
authors.lastname: Hansen
mesh_terms: D002874:Chromosome Mapping; D002880:Chromosomes, Human, Pair 11 / Q000235:genetics; D055028:Comparative Genomic Hybridization; D003241:Consanguinity; D005190:Family; D005260:Female; D005808:Genes, Recessive; D056426:Genetic Loci; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D008297:Male; D010154:Pakistan; D010375:Pedigree; D013577:Syndrome; D016615:Telomere / Q000235:genetics