title: An autosomal recessive syndrome of severe mental retardation, cataract, coloboma and kyphosis maps to the pericentromeric region of chromosome 4.
abstract: We report on three siblings with a novel mental retardation (MR) syndrome who were born to distantly related Iranian parents. The clinical problems comprised severe MR, cataracts with onset in late adolescence, kyphosis, contractures of large joints, bulbous nose with broad nasal bridge, and thick lips. Two patients also had uni- or bilateral iris coloboma. Linkage analysis revealed a single 10.4 Mb interval of homozygosity with significant LOD score in the pericentromeric region of chromosome 4 flanked by SNPs rs728293 (4p12) and rs1105434 (4q12). This interval contains more than 40 genes, none of which has been implicated in MR so far. The identification of the causative gene defect for this syndrome will provide new insights into the development of the brain and the eye.
authors.affiliation: Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran.
authors.forename: Kimia
authors.initials: K
authors.lastname: Kahrizi
authors.forename: Hossein
authors.initials: H
authors.lastname: Najmabadi
authors.forename: Roxana
authors.initials: R
authors.lastname: Kariminejad
authors.forename: Payman
authors.initials: P
authors.lastname: Jamali
authors.forename: Mahdi
authors.initials: M
authors.lastname: Malekpour
authors.forename: Masoud
authors.initials: M
authors.lastname: Garshasbi
authors.forename: Hans Hilger
authors.initials: HH
authors.lastname: Ropers
authors.forename: Andreas Walter
authors.initials: AW
authors.lastname: Kuss
authors.forename: Andreas
authors.initials: A
authors.lastname: Tzschach
mesh_terms: D002386:Cataract / Q000235:genetics*; D002874:Chromosome Mapping; D002894:Chromosomes, Human, Pair 4 / Q000235:genetics*; D003103:Coloboma / Q000235:genetics*; D005190:Family; D005260:Female; D005808:Genes, Recessive; D006239:Haplotypes; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D007738:Kyphosis / Q000235:genetics*; D008126:Lod Score; D008297:Male; D010375:Pedigree; D010641:Phenotype; D020641:Polymorphism, Single Nucleotide; D013577:Syndrome
references.citation: Am J Hum Genet. 2006 Sep;79(3):562-6
references.pmid: 16909395
references.citation: Hum Genet. 2004 Sep;115(4):302-9
references.pmid: 15257456
references.citation: Hum Genet. 2007 Mar;121(1):43-8
references.pmid: 17120046
references.citation: Proc Natl Acad Sci U S A. 1991 Oct 1;88(19):8696-9
references.pmid: 1717985
references.citation: Nat Genet. 1995 Nov;11(3):257-65
references.pmid: 7581448
references.citation: Hum Genet. 2006 Feb;118(6):708-15
references.pmid: 16311745
references.citation: J Med Genet. 1988 Jan;25(1):41-3
references.pmid: 3351890
references.citation: Nat Genet. 2005 Mar;37(3):221-3
references.pmid: 15696165
references.citation: Nat Biotechnol. 2003 Oct;21(10):1233-7
references.pmid: 12960966
references.citation: Am J Hum Genet. 2006 Apr;78(4):702-7
references.pmid: 16532399
references.citation: Genes Chromosomes Cancer. 2002 Mar;33(3):295-303
references.pmid: 11807987
references.citation: Am J Ment Retard. 2005 Jul;110(4):253-67
references.pmid: 15941363
references.citation: Genome Res. 2004 Mar;14(3):414-25
references.pmid: 14993208
references.citation: Ment Retard Dev Disabil Res Rev. 2002;8(3):117-34
references.pmid: 12216056