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Author's personal copy european journal of paediatric neurology 13 (2009) 458
Official Journal of the European Paediatric Neurology Society
Gene table
Autosomal recessive primary microcephalies (MCPH) Angela M. Kaindla,b,*, Sandrine Passemarda,b, Pierre Gressensa,b a
Inserm U676, Hoˆpital Robert Debre´, 48 Bolevard Serurier, 75019 Paris, France Universite´ Paris 7, Faculte´ de Me´decine Denis Diderot, IFR02 and IFR25, Paris, France
b
article info Article history: Received 21 July 2008 Accepted 22 July 2008
Autosomal recessive primary microcephaly (MCPH) types 1–6. Disease reference
Mode of inheritance
Gene location
Gene symbol
MIM
MCPH1 MCPH2 MCPH3
AR AR AR
8p23 19q13.1–q13.2 9q33.3
MCPH1 – CDK5RAP2
#251200 %604317 #604804
MCPH4 MCPH5 MCPH6
AR AR AR
15q15–q21 1q31 13q12.2
– ASPM CENPJ
%604321 #608716 #608393
references
1. Jackson AP, Eastwood H, Bell SM, et al. Identification of microcephalin, a protein implicated in determining the size of the human brain. Am J Hum Genet 2002;71:136–42. 2. Jackson AP, McHale DP, Campbell DA, et al. Primary autosomal recessive microcephaly (MCPH1) maps to chromosome 8p22-pter. Am J Hum Genet 1998;63:541–6. 3. Roberts E, Jackson AP, Carradice AC, et al. The second locus for autosomal recessive primary microcephaly (MCPH2) maps to chromosome 19q13.1–13.2. Eur J Hum Genet 1999;7:815–20. 4. Moynihan L, Jackson AP, Roberts E, et al. A third novel locus for primary autosomal recessive microcephaly maps to chromosome 9q34. Am J Hum Genet 2000;66:724–7.
Protein Microcephalin – Cyclin dependent kinase 5 regulatory associated protein 2 – Abnormal spindle-like, microcephaly associated Centromeric protein J
Key references 1,2 3 4,5 6 7–9 5,10
5. Bond J, Roberts E, Springell K, et al. A centrosomal mechanism involving CDK5RAP2 and CENPJ controls brain size. Nat Genet 2005;37:353–5. 6. Jamieson CR, Govaerts C, Abramowicz MJ. Primary autosomal recessive microcephaly: homozygosity mapping of MCPH4 to chromosome 15. Am J Hum Genet 1999;65:1465–9. 7. Jamieson CR, Fryns JP, Jacobs J, et al. Primary autosomal recessive microcephaly: MCPH5 maps to 1q25–q32. Am J Hum Genet 2000;67:1575–7. 8. Pattison L, Crow YJ, Deeble VJ, et al. A fifth locus for primary autosomal recessive microcephaly maps to chromosome 1q31. Am J Hum Genet 2000;67:1578–80. 9. Bond J, Roberts E, Mochida GH, et al. ASPM is a major determinant of cerebral cortical size. Nat Genet 2002;32:316–20. 10. Leal GF, Roberts E, Silva EO, et al. A novel locus for autosomal recessive primary microcephaly (MCPH6) maps to 13q12.2. J Med Genet 2003;40:540–2.
* Corresponding author. Inserm U676, Hoˆpital Robert Debre´, 48 Bolevard Serurier, 75019 Paris, France. Tel./fax: þ33 (0)1 40 03 19 97/95. E-mail address:
[email protected] (A.M. Kaindl). 1090-3798/$ – see front matter ª 2008 European Paediatric Neurology Society. Published by Elsevier Ltd. All rights reserved. doi:10.1016/j.ejpn.2008.07.010
