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SHORT COMMUNICATION

NOVEL PROTEIN-TRUNCATING MUTATIONS IN THE ASPM GENE IN FAMILIES WITH AUTOSOMAL RECESSIVE PRIMARY MICROCEPHALY

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Pages 153-163 | Received 22 Dec 2006, Accepted 26 Mar 2007, Published online: 11 Jul 2009

REFERENCES

  • Bond, J., Roberts, E., Mochida, G.H., Hampshire, D.J., Scott, S., Askham, J.M., Springell, K., Mahadevan, M., Crow, Y.J., Markham, A.F., Walsh, C.A., &. Woods, C.G. (2002). ASPM is a major determinant of cerebral cortical size. Nat. Genet. 32, 316–320.
  • Bond, J., Roberts, E., Springell, K., Lizarraga, S.B., Scott, S., Higgins, J., Hampshire, D.J., Morrison, E.E., Leal, G.F., Silva, E.O., Costa, S.M.R., Baralle, D., Raponi, M., Karbani, G., Rashid, Y., Jafri, H., Bennett, C., Corry, P., Walsh, C.A., &. Woods, C.G. (2005). A centrosomal mechanism involving CDK5RAP2 and CENPJ controls brain size. Nat. Genet. 37, 353–355.
  • Bond, J., Scott, S., Hampshire, D.J., Springell, K., Corry, P., Abramowicz, M.J., Mochida, G.H., Hennekam, R.C., Maher, E.R., Fryns, J.P., Alswaid, A., Jafri, H., Rashid, Y., Mubaidin, A., Walsh, C.A., Roberts, E., &. Woods, C.G. (2003). Protein-truncating mutations in ASPM cause variable reduction in brain size. Amer. J. Hum. Genet. 73, 1170–1177.
  • Cox, J., Jackson, A.P., Bond, J., &. Woods, C.G. (2006). What primary microcephaly can tell us about brain growth. Trends Molec. Med. 12, 358–366.
  • Grimberg, J., Nawoschik, S., Bellusico, L., McKee, R., Trucks, A., &. Eisenberg, A. (1989). A simple and efficient non-organic procedure for the isolation of genomic DNA from blood. Nucleic Acids Res. 17, 83–90.
  • Gul, A., Hassan, M.J., Hussain, S., Raza, S.I., Chishti, M.S., &. Ahmad, W. (2006b). A novel deletion mutation in CENPJ gene in a Pakistani family with autosomal recessive primary microcephaly. J. Hum. Genet. 51, 760–764.
  • Gul, A., Hassan, M.J., Mahmood, S., Chen, W., Rahmani, S., Naseer, M.I., Dellefave, L., Muhammad, N., Rafiq, M.A., Ansar, M., Chishti, M.S., Ali, G., Siddique, T., &. Ahmad, W. (2006a). Genetic studies of autosomal recessive primary microcephaly in 33 Pakistani families: novel sequence variants in ASPM gene. Neurogenetics 7, 105–110.
  • Jackson, A.P., Eastwood, H., Bell, S.M., Adu, J., Toomes, C., Carr, I.M., Roberts, E., Hampshire, D.J., Crow, Y.J., Mighell, A.J., Karbani, G., Jafri, H., Rashid, Y., Mueller, R.F., Markham, A.F., &. Woods, C.G. (2002). Identification of microcephalin, a protein implicated in determining the size of the human brain. Amer. J. Hum. Genet. 71, 136–142.
  • Kong, X., Murphy, K., Raj, T., He, C., White, P.S., &. Matise, T.C. (2004). A combined linkage-physical map of the human genome. Amer. J. Hum. Genet. 75, 1143–1148.
  • Kouprina, N., Pavlicek, A., Collins, N.K., Nakano, M., Noskov, V.N., Ohzeki, J., Mochida, G.H., Risinger, J.I., Goldsmith, P., Gunsior, M., Solomon, G., Gersch, W., Kim, J.H., Barrett, J.C., Walsh, C.A., Jurka, J., Masumoto, H., &. Larionov, V. (2005). The microcephaly ASPM gene is expressed in proliferating tissues and encodes for a mitotic spindle protein. Hum. Mol. Genet. 14, 1–11.
  • Kumar, A., Blanton, S.H., Babu, M., Markandaya, M., &. Girimaji, S.C. (2004). Genetic analysis of primary microcephaly in Indian families: novel ASPM mutations. Clin. Genet. 66, 341–348.
  • Pichon, B., Vankerckhove, S., Bourrouillou, G., Duprez, L., &. Abramowicz, M.J. (2004). A translocation breakpoint disrupts the ASPM gene in a patient with primary microcephaly. Eur. J. Hum. Genet. 12, 419–421.
  • Riparbelli, M.G., Callaini, G., Glover, D.M., &. Avides, Mdo.C. (2002). A requirement for the Abnormal Spindle protein to organise microtubules of the central spindle for cytokinesis in Drosophila. J. Cell Sci. 115, 913–922.
  • Roberts, E., Hampshire, D.J., Pattison, L., Springell, K., Jafri, H., Corry, P., Mannon, J., Rashid, Y., Crow, Y., Bond, J., &. Woods, C.G. (2002). Autosomal recessive primary microcephaly: an analysis of locus heterogeneity and phenotypic variation. J. Med. Genet. 39, 718–721.
  • 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.
  • Trimborn, M., Bell, S.M., Felix, C., Rashid, Y., Jafri, H., Griffiths, P.D., Neumann, L.M., Krebs, A., Reis, A., Sperling, K., Neitzel, H., &. Jackson A.P. (2004). Mutations in microcephalin cause aberrant regulation of chromosome condensation. Amer. J. Hum. Genet. 75, 261–266.
  • Trimborn, M., Richter, R., Sternberg, N., Gavvovidis, I., Schindler, D., Jackson, A.P., Prott, E., Sperling, K., Gillessen-Kaesbach, G., &. Neitzel, H. (2005). The first missense alteration in the MCPH1 gene causes autosomal recessive microcephaly with an extremely mild cellular and clinical phenotype. Hum. Mutat. 26, 496.
  • Woods, C.G., Bond, J., &. Enard, W. (2005). Autosomal recessive primary microcephaly (MCPH): a review of clinical, molecular, and evolutionary findings. Amer. J. Hum. Genet. 76, 717–728.

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