SNP array-based homozygosity mapping reveals MCPH1 deletion in family with 
autosomal recessive mental retardation and mild microcephaly

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

doi:10.1007/s00439-005-0104-y

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SNP array-based homozygosity mapping reveals MCPH1 deletion in family with autosomal recessive mental retardation and mild microcephaly

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Garshasbi, Masoud
Dept. of Human Molecular Genetics (Head: Hans-Hilger Ropers), Max Planck Institute for Molecular Genetics, Max Planck Society;

Motazacker, Mohammad Mahdi
Max Planck Society;

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Tzschach, Andreas
Dept. of Human Molecular Genetics (Head: Hans-Hilger Ropers), Max Planck Institute for Molecular Genetics, Max Planck Society;

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Erdogan, Fikret
Dept. of Human Molecular Genetics (Head: Hans-Hilger Ropers), Max Planck Institute for Molecular Genetics, Max Planck Society;

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Ullmann, Reinhard
Molecular Cytogenetics (Reinhard Ullmann), Dept. of Human Molecular Genetics (Head: Hans-Hilger Ropers), Max Planck Institute for Molecular Genetics, Max Planck Society;

Lenzner, Steffen
Max Planck Society;

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Kuss, Andreas W.
Familial Cognitive Disorders (Luciana Musante), Dept. of Human Molecular Genetics (Head: Hans-Hilger Ropers), Max Planck Institute for Molecular Genetics, Max Planck Society;

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Ropers, Hans-Hilger
Dept. of Human Molecular Genetics (Head: Hans-Hilger Ropers), Max Planck Institute for Molecular Genetics, Max Planck Society;

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Citation

Garshasbi, M., Motazacker, M. M., Kahrizi, K., Behjati, F., Abedini, S. S., Nieh, S. E., et al. (2006). SNP array-based homozygosity mapping reveals MCPH1 deletion in family with autosomal recessive mental retardation and mild microcephaly. Human Genetics, 118(6), 708-715. doi:10.1007/s00439-005-0104-y.

Cite as: https://hdl.handle.net/11858/00-001M-0000-0010-84A6-C

Abstract

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.