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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

Item Type:Review
Title:Homozygosity mapping in consanguineous families reveals extreme heterogeneity of non-syndromic autosomal recessive mental retardation and identifies 8 novel gene loci
Creators Name:Najmabadi, H. and Motazacker, M.M. and Garshasbi, M. and Kahrizi, K. and Tzschach, A. and Chen, W. and Behjati, F. and Hadavi, V. and Nieh, S.E. and Abedini, S.S. and Vazifehmand, R. and Firouzabadi, S.G. and Jamali, P. and Falah, M. and Seifati, S.M. and Grueters, A. and Lenzner, S. and Jensen, L.R. and Rueschendorf, F. and Kuss, A.W. and Ropers, H.H.
Abstract: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.
Keywords:Consanguinity, Family, Genetic Heterogeneity, Genetic Markers, Homozygote, Intellectual Disability, Iran, Pedigree, Recessive Genes
Source:Human Genetics
ISSN:0340-6717
Publisher:Springer (Germany)
Volume:121
Number:1
Page Range:43-48
Date:March 2007
Official Publication:https://doi.org/10.1007/s00439-006-0292-0
PubMed:View item in PubMed

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