caa a22 4500 445364599 CHVBK 20180317142926.0 cr unu---uuuuu 170323e20110801xx s 000 0 eng 10.1007/s10048-011-0286-5 doi (NATIONALLICENCE)springer-10.1007/s10048-011-0286-5 Autozygosity mapping of a large consanguineous Pakistani family reveals a novel non-syndromic autosomal recessive mental retardation locus on 11p15-tel [Elektronische Daten] [Shoaib ur Rehman, Shahid Baig, Hans Eiberg, Sijad ur Rehman, Ilyas Ahmad, Naveed Malik, Niels Tommerup, Lars Hansen] 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. Springer-Verlag, 2011 NS-ARMR nationallicence MRT17 nationallicence Autozygosity mapping nationallicence Telomeric 11p15 nationallicence Rehman Shoaib ur Human Molecular Genetics Laboratory, Health Biotechnology Division, National Institute for Biotechnology & Genetic Engineering, Faisalabad, Pakistan aut Baig Shahid Human Molecular Genetics Laboratory, Health Biotechnology Division, National Institute for Biotechnology & Genetic Engineering, Faisalabad, Pakistan aut Eiberg Hans Department of Cellular and Molecular Medicine, University of Copenhagen, Blegdamsvej 3, 2200 N, Copenhagen, Denmark aut Rehman Sijad ur Pakistan Institute of Medical Sciences, Islamabad, Pakistan aut Ahmad Ilyas Human Molecular Genetics Laboratory, Health Biotechnology Division, National Institute for Biotechnology & Genetic Engineering, Faisalabad, Pakistan aut Malik Naveed Human Molecular Genetics Laboratory, Health Biotechnology Division, National Institute for Biotechnology & Genetic Engineering, Faisalabad, Pakistan aut Tommerup Niels Department of Cellular and Molecular Medicine, University of Copenhagen, Blegdamsvej 3, 2200 N, Copenhagen, Denmark aut Hansen Lars Department of Cellular and Molecular Medicine, University of Copenhagen, Blegdamsvej 3, 2200 N, Copenhagen, Denmark aut neurogenetics Springer-Verlag 12/3(2011-08-01), 247-251 1364-6745 12:3<247 2011 12 10048 https://doi.org/10.1007/s10048-011-0286-5 text/html Onlinezugriff via DOI 1 brief-communication jats NATIONALLICENCE 856 40 https://doi.org/10.1007/s10048-011-0286-5 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Rehman Shoaib ur Human Molecular Genetics Laboratory, Health Biotechnology Division, National Institute for Biotechnology & Genetic Engineering, Faisalabad, Pakistan aut NATIONALLICENCE 700 1- Baig Shahid Human Molecular Genetics Laboratory, Health Biotechnology Division, National Institute for Biotechnology & Genetic Engineering, Faisalabad, Pakistan aut NATIONALLICENCE 700 1- Eiberg Hans Department of Cellular and Molecular Medicine, University of Copenhagen, Blegdamsvej 3, 2200 N, Copenhagen, Denmark aut NATIONALLICENCE 700 1- Rehman Sijad ur Pakistan Institute of Medical Sciences, Islamabad, Pakistan aut NATIONALLICENCE 700 1- Ahmad Ilyas Human Molecular Genetics Laboratory, Health Biotechnology Division, National Institute for Biotechnology & Genetic Engineering, Faisalabad, Pakistan aut NATIONALLICENCE 700 1- Malik Naveed Human Molecular Genetics Laboratory, Health Biotechnology Division, National Institute for Biotechnology & Genetic Engineering, Faisalabad, Pakistan aut NATIONALLICENCE 700 1- Tommerup Niels Department of Cellular and Molecular Medicine, University of Copenhagen, Blegdamsvej 3, 2200 N, Copenhagen, Denmark aut NATIONALLICENCE 700 1- Hansen Lars Department of Cellular and Molecular Medicine, University of Copenhagen, Blegdamsvej 3, 2200 N, Copenhagen, Denmark aut NATIONALLICENCE 773 0- neurogenetics Springer-Verlag 12/3(2011-08-01), 247-251 1364-6745 12:3<247 2011 12 10048 Metadata rights reserved Springer special CC-BY-NC licence nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-springer