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  Transcription Factor SOX3 Is Involved in X-Linked Mental Retardation with Growth Hormone Deficiency

Laumonnier, F., Ronce, N., Hamel, B. C. J., Thomas, P., Jespinasse, J., Raynaud, M., et al. (2002). Transcription Factor SOX3 Is Involved in X-Linked Mental Retardation with Growth Hormone Deficiency. American Journal of Human Genetics, 71(6), 1450-1455.

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Item Permalink: http://hdl.handle.net/11858/00-001M-0000-0010-8B6B-7 Version Permalink: http://hdl.handle.net/11858/00-001M-0000-0010-8B6C-5
Genre: Journal Article

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 Creators:
Laumonnier, Frédéric, Author
Ronce, Nathalie, Author
Hamel, Ben C. J., Author
Thomas, Paul, Author
Jespinasse, James, Author
Raynaud, Martine, Author
Paringaux, Christine, Author
Bokhoven, Hans van, Author
Kalscheuer, Vera1, Author              
Fryns, Jean-Pierre, Author
Chelly, Jamel, Author
Moraine, Claude, Author
Briault, Sylvain, Author
Affiliations:
1Chromosome Rearrangements and Disease (Vera Kalscheuer), Dept. of Human Molecular Genetics (Head: Hans-Hilger Ropers), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_1479642              

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 Abstract: 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.

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Language(s): eng - English
 Dates: 2002-12
 Publication Status: Published in print
 Pages: -
 Publishing info: -
 Table of Contents: -
 Rev. Method: -
 Identifiers: eDoc: 24162
 Degree: -

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Title: American Journal of Human Genetics
Source Genre: Journal
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Pages: - Volume / Issue: 71 (6) Sequence Number: - Start / End Page: 1450 - 1455 Identifier: -