Homozygosity mapping in consanguineous families reveals extreme heterogeneity of non-syndromic autosomal recessive mental retardation and identifies 8 novel gene loci.
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.
Najmabadi
Hossein
H
Genetics Research Centre, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran.
Motazacker
Mohammad Mahdi
MM
Garshasbi
Masoud
M
Kahrizi
Kimia
K
Tzschach
Andreas
A
Chen
Wei
W
Behjati
Farkhondeh
F
Hadavi
Valeh
V
Nieh
Sahar Esmaeeli
SE
Abedini
Seyedeh Sedigheh
SS
Vazifehmand
Reza
R
Firouzabadi
Saghar Ghasemi
SG
Jamali
Payman
P
Falah
Masoumeh
M
Seifati
Seyed Morteza
SM
Grüters
Annette
A
Lenzner
Steffen
S
Jensen
Lars R
LR
Rüschendorf
Franz
F
Kuss
Andreas W
AW
Ropers
H Hilger
HH
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
D005819:Genetic Markers