LETTER TO JMG

A novel locus for autosomal recessive primary microcephaly (MCPH6) maps to 13q12.2

G F Leal¹, E Roberts², E O Silva¹, S M R Costa³, D J Hampshire², C G Woods²

¹ Instituto Materno-Infantil de Pernambuco (IMIP), Recife-PE, Brazil
² Molecular Medicine Unit, University of Leeds, St James’s University Hospital, Leeds LS9 7TF, UK
³ Departamento de Genética, Universidade Federal de Pernambuco, Recife-PE, Brazil

Correspondence to:
Correspondence to:
Dr C G Woods, Molecular Medicine Unit, University of Leeds, St James’s University Hospital, Leeds LS9 7TF, UK;
msjcgw@leeds.ac.uk

Keywords: microcephaly; MCPH6; cerebral cortex; autozygosity mapping

The first 150 words of the full text of this article appear below.

Microcephaly is the clinical finding of a head circumference measurement greater than three standard deviations (SD) below the population mean for age and sex. It is usually accompanied by mental retardation and there are many diagnoses with both environmental and genetic aetiologies.¹ Autosomal recessive primary microcephaly (MCPH) (MIM 251200) is a disorder in which affected subjects are born with a small head circumference, explained by a cerebral cortex of reduced size, and are mentally retarded. The brain is structurally normal and, apart from the intellectual impairment, there are no other significant neurological problems, dysmorphic features, or malformations.^2,3 In a study carried out in The Netherlands,⁴ the incidence of MCPH was approximately 1/250 000 but it is probably greater in populations with a high rate of consanguineous marriages. MCPH has been shown to be genetically heterogeneous with the identification of five loci: MCPH1 on 8p23,⁵ MCPH2 on 19q13,⁶ MCPH3 on 9q34,⁷ . . . [Full text of this article]

CiteULike    Complore    Connotea    Del.icio.us    Digg    Reddit    Technorati    What's this?

This article has been cited by other articles:

• McFarland, K. N., Wilkes, S. R., Koss, S. E., Ravichandran, K. S., Mandell, J. W. (2006). Neural-specific inactivation of ShcA results in increased embryonic neural progenitor apoptosis and microencephaly.. J. Neurosci. 26: 7885-7897 [Abstract] [Full Text]  
• Evans, P. D., Gilbert, S. L., Mekel-Bobrov, N., Vallender, E. J., Anderson, J. R., Vaez-Azizi, L. M., Tishkoff, S. A., Hudson, R. R., Lahn, B. T. (2005). Microcephalin, a Gene Regulating Brain Size, Continues to Evolve Adaptively in Humans. Science 309: 1717-1720 [Abstract] [Full Text]  
• Shen, J, Eyaid, W, Mochida, G H, Al-Moayyad, F, Bodell, A, Woods, C G, Walsh, C A (2005). ASPM mutations identified in patients with primary microcephaly and seizures. J. Med. Genet. 42: 725-729 [Abstract] [Full Text]  
• Mochida, G. H. (2005). Topical Review: Cortical Malformation and Pediatric Epilepsy: A Molecular Genetic Approach. J Child Neurol 20: 300-303 [Abstract]  
• Evans, P. D., Anderson, J. R., Vallender, E. J., Choi, S. S., Lahn, B. T. (2004). Reconstructing the evolutionary history of microcephalin, a gene controlling human brain size. Hum Mol Genet 13: 1139-1145 [Abstract] [Full Text]  
• Wang, Y.-q., Su, B. (2004). Molecular evolution of microcephalin, a gene determining human brain size. Hum Mol Genet 13: 1131-1137 [Abstract] [Full Text]  
• Mochida, G. H., Walsh, C. A. (2004). Genetic Basis of Developmental Malformations of the Cerebral Cortex. Arch Neurol 61: 637-640 [Abstract] [Full Text]  
• Mochida, G. H. (2004). Topical Review: Cortical Malformation and Pediatric Epilepsy: A Molecular Genetic Approach. J Child Neurol 19: 300-303 [Abstract]