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Neurogenetics. 2011 Aug;12(3):247-51. doi: 10.1007/s10048-011-0286-5. Epub 2011 Jun 4.

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

Author information

1
Human Molecular Genetics Laboratory, Health Biotechnology Division, National Institute for Biotechnology & Genetic Engineering, Faisalabad, Pakistan.

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 Zā€‰=ā€‰3.31 was calculated for the mapped region. These results suggest a novel genetic locus, MRT17, for NS-ARMR.

PMID:
21643797
DOI:
10.1007/s10048-011-0286-5
[Indexed for MEDLINE]

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