Autozygosity mapping of a large consanguineous Pakistani family reveals a novel non-syndromic autosomal recessive mental retardation locus on 11p15-tel

TY - JOUR

T1 - Autozygosity mapping of a large consanguineous Pakistani family reveals a novel non-syndromic autosomal recessive mental retardation locus on 11p15-tel

AU - Rehman, Shoaib ur

AU - Baig, Shahid Mahmood

AU - Eiberg, Hans

AU - Rehman, Sijad ur

AU - Ahmad, Ilyas

AU - Malik, Naveed Altaf

AU - Tommerup, Niels

AU - Hansen, Lars

PY - 2011/8

Y1 - 2011/8

N2 - 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.

AB - 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.

KW - Chromosome Mapping

KW - Chromosomes, Human, Pair 11

KW - Comparative Genomic Hybridization

KW - Consanguinity

KW - Family

KW - Female

KW - Genes, Recessive

KW - Genetic Loci

KW - Humans

KW - Intellectual Disability

KW - Male

KW - Pakistan

KW - Pedigree

KW - Syndrome

KW - Telomere

U2 - 10.1007/s10048-011-0286-5

DO - 10.1007/s10048-011-0286-5

M3 - Journal article

C2 - 21643797

SN - 1364-6745

VL - 12

SP - 247

EP - 251

JO - Neurogenetics

JF - Neurogenetics

IS - 3

ER -