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 language | English |
|---|---|
| Journal | Neurogenetics |
| Volume | 12 |
| Issue number | 3 |
| Pages (from-to) | 247-51 |
| Number of pages | 5 |
| ISSN | 1364-6745 |
| DOIs | |
| Publication status | Published - Aug 2011 |
Keywords
- Chromosome Mapping
- Chromosomes, Human, Pair 11
- Comparative Genomic Hybridization
- Consanguinity
- Family
- Female
- Genes, Recessive
- Genetic Loci
- Humans
- Intellectual Disability
- Male
- Pakistan
- Pedigree
- Syndrome
- Telomere