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

doi:10.1007/s00439-005-0104-y

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Article

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

Human genetics - 1 Feb 2006

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 H Hilger, Najmabadi Hossein

Abstract excerpt

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...

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PMID: 16311745
DOI: 10.1007/s00439-005-0104-y

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MCPH1

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SNP array-based homozygosity mapping reveals MCPH1 deletion in family with autosomal recessive mental retardation and mild microcephaly.PMID 16311745Read ↗

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