title: Homozygosity mapping in consanguineous families reveals extreme heterogeneity of non-syndromic autosomal recessive mental retardation and identifies 8 novel gene loci.
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.
authors.affiliation: Genetics Research Centre, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran.
authors.forename: Hossein
authors.initials: H
authors.lastname: Najmabadi
authors.forename: Mohammad Mahdi
authors.initials: MM
authors.lastname: Motazacker
authors.forename: Masoud
authors.initials: M
authors.lastname: Garshasbi
authors.forename: Kimia
authors.initials: K
authors.lastname: Kahrizi
authors.forename: Andreas
authors.initials: A
authors.lastname: Tzschach
authors.forename: Wei
authors.initials: W
authors.lastname: Chen
authors.forename: Farkhondeh
authors.initials: F
authors.lastname: Behjati
authors.forename: Valeh
authors.initials: V
authors.lastname: Hadavi
authors.forename: Sahar Esmaeeli
authors.initials: SE
authors.lastname: Nieh
authors.forename: Seyedeh Sedigheh
authors.initials: SS
authors.lastname: Abedini
authors.forename: Reza
authors.initials: R
authors.lastname: Vazifehmand
authors.forename: Saghar Ghasemi
authors.initials: SG
authors.lastname: Firouzabadi
authors.forename: Payman
authors.initials: P
authors.lastname: Jamali
authors.forename: Masoumeh
authors.initials: M
authors.lastname: Falah
authors.forename: Seyed Morteza
authors.initials: SM
authors.lastname: Seifati
authors.forename: Annette
authors.initials: A
authors.lastname: Grüters
authors.forename: Steffen
authors.initials: S
authors.lastname: Lenzner
authors.forename: Lars R
authors.initials: LR
authors.lastname: Jensen
authors.forename: Franz
authors.initials: F
authors.lastname: Rüschendorf
authors.forename: Andreas W
authors.initials: AW
authors.lastname: Kuss
authors.forename: H Hilger
authors.initials: HH
authors.lastname: Ropers
mesh_terms: D000328:Adult; D002648:Child; D003241:Consanguinity; D005190:Family; D005260:Female; D005808:Genes, Recessive; D018740:Genetic Heterogeneity; D005819:Genetic Markers; D006720:Homozygote; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D007492:Iran; D008297:Male; D010375:Pedigree
chemical_list: D005819:Genetic Markers