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



  history
ID: 24162.0, MPI für molekulare Genetik / Department of Human Molecular Genetics
Transcription Factor SOX3 Is Involved in X-Linked Mental Retardation with Growth Hormone Deficiency
Authors:Laumonnier, Frédéric; Ronce, Nathalie; Hamel, Ben C. J.; Thomas, Paul; Jespinasse, James; Raynaud, Martine; Paringaux, Christine; Bokhoven, Hans van; Kalscheuer, Vera; Fryns, Jean-Pierre; Chelly, Jamel; Moraine, Claude; Briault, Sylvain
Language:English
Date of Publication (YYYY-MM-DD):2002-12
Title of Journal:American Journal of Human Genetics
Volume:71
Issue / Number:6
Start Page:1450
End Page:1455
Review Status:not specified
Audience:Experts Only
Abstract / Description:Physical mapping of the breakpoints of a pericentric inversion of the X chromosome (46,X,inv[X][p21q27]) in a female patient with mild mental retardation revealed localization of the Xp breakpoint in the IL1RAPL gene at Xp21.3 and the Xq breakpoint near the SOX3 gene (SRY [sex determining region Y]box 3) (GenBank accession number NM_005634) at Xq26.3. Because carrier females with microdeletion in the IL1RAPL gene do not present any abnormal phenotype, we focused on the Xq breakpoint. However, we were unable to confirm the involvement of SOX3 in the mental retardation in this female patient. To validate SOX3 as an X-linked mental retardation (XLMR) gene, we performed mutation analyses in families with XLMR whose causative gene mapped to Xq26-q27. We show here that the SOX3 gene is involved in a large family in which affected individuals have mental retardation and growth hormone deficiency. The mutation results in an in-frame duplication of 33 bp encoding for 11 alanines in a polyalanine tract of the SOX3 gene. The expression pattern during neural and pituitary development suggests that dysfunction of the SOX3 protein caused by the polyalanine expansion might disturb transcription pathways and the regulation of genes involved in cellular processes and functions required for cognitive and pituitary development.
External Publication Status:published
Document Type:Article
Communicated by:Hans-Hilger Ropers
Affiliations:MPI für molekulare Genetik
External Affiliations:Services de Génétique- and Pédopsychiatrie-INSERM U316, CHU Bretonneau, Tours, France
Department of Human Genetics, University Hospital, Nijmegen, The Netherlands
Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, Victoria, Australia; 5Laboratoire de Génétique Chromosomique, CH Chambéry, France
Center for Human Genetics, Leuven, Belgium
Institut Cochin-CHU Cochin Port-Royal, Paris
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