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Homozygosity mapping in consanguineous families reveals extreme heterogeneity of non-syndromic autosomal recessive mental retardation and identifies 8 novel gene loci
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Homozygosity mapping in consanguineous families reveals extreme heterogeneity of non-syndromic autosomal recessive mental retardation and identifies 8 novel gene loci
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Homozygosity mapping in consanguineous families reveals extreme heterogeneity of non-syndromic autosomal recessive mental retardation and identifies 8 novel gene loci
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Journal Article
Homozygosity mapping in consanguineous families reveals extreme heterogeneity of non-syndromic autosomal recessive mental retardation and identifies 8 novel gene loci
2007
Overview
Autosomal recessive gene defects are arguably the most important, but least studied genetic causes of severe cognitive dysfunction. Homozygosity mapping in 78 consanguineous Iranian families with nonsyndromic autosomal recessive mental retardation (NS-ARMR) has enabled us to determine the chromosomal localization of at least 8 novel gene loci for this condition. Our data suggest that in the Iranian population NS-ARMR is very heterogeneous, and they argue against the existence of frequent gene defects that account for more than a few percent of the cases.
Publisher
Springer,Springer Nature B.V
Subject
/ Adult and adolescent clinical studies
/ Biological and medical sciences
/ Child
/ Classical genetics, quantitative genetics, hybrids
/ Family
/ Female
/ Fundamental and applied biological sciences. Psychology
/ Genes
/ Genetics
/ Genetics of eukaryotes. Biological and molecular evolution
/ Human
/ Humans
/ Intellectual Disability - genetics
/ Iran
/ Male
/ Methods, theories and miscellaneous
/ Mutation
/ Patients
/ Pedigree
