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

Shoaib Ur Rehman, Shahid Mahmood Baig, Hans Eiberg, Sijad Ur Rehman, Ilyas Ahmad, Naveed Altaf Malik, Niels Tommerup, Lars Hansen

Research output: Contribution to journalArticlepeer-review

4 Citations (Scopus)

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.

Original languageEnglish
Pages (from-to)247-251
Number of pages5
JournalNeurogenetics
Volume12
Issue number3
DOIs
Publication statusPublished - Aug 2011
Externally publishedYes

Keywords

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

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