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

作者：Rehman Shoaib Ur; Baig Shahid Mahmood; Eiberg Hans; Rehman Sijad Ur; Ahmad Ilyas; Malik Naveed Altaf; Tommerup Niels^*; Hansen Lars

来源：Neurogenetics, 2011, 12(3): 247-251.

DOI：10.1007/s10048-011-0286-5

• NS-ARMR
• MRT17
• Autozygosity mapping
• Telomeric 11p15

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.

• 出版日期2011-8
• 单位河北医科大学