Autozygosity mapping of a large consanguineous Pakistani family reveals a novel non-syndromic autosomal recessive mental retardation locus on 11p15-tel
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Autozygosity mapping of a large consanguineous Pakistani family reveals a novel non-syndromic autosomal recessive mental retardation locus on 11p15-tel. / Rehman, Shoaib ur; Baig, Shahid Mahmood; Eiberg, Hans; Rehman, Sijad ur; Ahmad, Ilyas; Malik, Naveed Altaf; Tommerup, Niels; Hansen, Lars.
In: Neurogenetics, Vol. 12, No. 3, 2011, p. 247-51.Research output: Contribution to journal › Journal article › Research › peer-review
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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
Y1 - 2011
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
VL - 12
SP - 247
EP - 251
JO - Neurogenetics
JF - Neurogenetics
SN - 1364-6745
IS - 3
ER -
ID: 38380630