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

ID: 307622.0, MPI für molekulare Genetik / Department of Human Molecular Genetics
SNP array-based homozygosity mapping reveals MCPH1 deletion in family with autosomal recessive mental retardation and mild microcephaly
Authors:Garshasbi, Masoud; Motazacker, Mohammad Mahdi; Kahrizi, Kimia; Behjati, Farkhondeh; Abedini, Seyedeh Sedigheh; Nieh, Sahar Esmaeeli; Firouzabadi, Saghar Ghasemi; Becker, Christian; Rüschendorf, Franz; Nürnberg, Peter; Tzschach, Andreas; Vazifehmand, Reza; Erdogan, Fikret; Ullmann, Reinhard; Lenzner, Steffen; Kuss, Andreas W.; Ropers, Hans-Hilger; Najmabadi, Hossein
Date of Publication (YYYY-MM-DD):2006-02-01
Title of Journal:Human Genetics
Journal Abbrev.:Hum Genet.
Issue / Number:6
Start Page:708
End Page:715
Copyright:© Springer. Part of Springer Science+Business Media
Review Status:not specified
Audience:Experts Only
Abstract / Description:Very little is known about the molecular basis of autosomal recessive MR (ARMR) because in developed countries, small family sizes preclude mapping and identification of the relevant gene defects. We therefore chose to investigate genetic causes of ARMR in large consanguineous Iranian families. This study reports on a family with six mentally retarded members. Array-based homozygosity mapping and high-resolution microarray-based comparative genomic hybridization (array CGH) revealed a deletion of approximately 150–200 kb, encompassing the promoter and the first six exons of the MCPH1 gene, one out of four genes that have been previously implicated in ARMR with microcephaly. Reexamination of affected individuals revealed a high proportion of prematurely condensed chromosomes, which is a hallmark of this condition, but in spite of the severity of the mutation, all patients showed only borderline to mild microcephaly. Therefore the phenotypic spectrum of MCPH1 mutations may be wider than previously assumed, with ARMR being the only consistent clinical finding.
Comment of the Author/Creator:Email: ropers@molgen.mpg.de
External Publication Status:published
Document Type:Article
Communicated by:Hans-Hilger Ropers
Affiliations:MPI für molekulare Genetik
External Affiliations:1.Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Teheran, Iran;
2.Gene Mapping Center, Max Delbrück Center for Molecular Medicine, Berlin, Germany;
3.Cologne Center for Genomics and Institute for Genetics, University of Cologne, Cologne, Germany.
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