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          Institute: MPI für molekulare Genetik     Collection: Department of Human Molecular Genetics     Display Documents



  history
ID: 472564.0, MPI für molekulare Genetik / Department of Human Molecular Genetics
An autosomal recessive syndrome of severe mental retardation, cataract, coloboma and kyphosis maps to the pericentromeric region of chromosome 4
Authors:Kahrizi, Kimia; Najmabadi, Hossein; Kariminejad, Roxana; Jamali, Payman; Malekpour, Mahdi; Garshasbi, Masoud; Ropers, Hans-Hilger; Kuss, Andreas Walter; Tzschach, Andreas
Language:English
Date of Publication (YYYY-MM-DD):2009-01
Title of Journal:European Journal of Human Genetics
Journal Abbrev.:Eur J Hum Genet
Volume:17
Issue / Number:1
Start Page:125
End Page:128
Copyright:© 2010 European Society of Human Genetics
Review Status:not specified
Audience:Experts Only
Abstract / Description: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.
Comment of the Author/Creator:email: tzschach@molgen.mpg.de
External Publication Status:published
Document Type:Article
Communicated by:Hans-Hilger Ropers
Affiliations:MPI für molekulare Genetik
External Affiliations:Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran
Identifiers:DOI:10.1038/ejhg.2008.159
ISSN:1018-4813
URL:http://www.nature.com/ejhg/journal/v17/n1/pdf/ejhg...
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