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. 1998 Aug;63(2):541–546. doi: 10.1086/301966

Primary autosomal recessive microcephaly (MCPH1) maps to chromosome 8p22-pter.

A P Jackson 1, D P McHale 1, D A Campbell 1, H Jafri 1, Y Rashid 1, J Mannan 1, G Karbani 1, P Corry 1, M I Levene 1, R F Mueller 1, A F Markham 1, N J Lench 1, C G Woods 1
PMCID: PMC1377307  PMID: 9683597

Abstract

Primary (or "true") microcephaly is inherited as an autosomal recessive trait and is thought to be genetically heterogeneous. Using autozygosity mapping, we have identified a genetic locus (MCPH1) for primary microcephaly, at chromosome 8p22-pter, in two consanguineous families of Pakistani origin. Our results indicate that the gene lies within a 13-cM region between the markers D8S1824 and D8S1825 (maximum multipoint LOD score of 8.1 at D8S277). In addition, we have demonstrated the genetic heterogeneity of this condition by analyzing a total of nine consanguineous families with primary microcephaly.

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Selected References

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  1. Alexiou M., Leese H. J. Purine utilisation, de novo synthesis and degradation in mouse preimplantation embryos. Development. 1992 Jan;114(1):185–192. doi: 10.1242/dev.114.1.185. [DOI] [PubMed] [Google Scholar]
  2. COWIE V. The genetics and sub-classification of microcephaly. J Ment Defic Res. 1960 Jun;4:42–47. doi: 10.1111/j.1365-2788.1960.tb00751.x. [DOI] [PubMed] [Google Scholar]
  3. Cherbas L., Schulz R. A., Koehler M. M., Savakis C., Cherbas P. Structure of the Eip28/29 gene, an ecdysone-inducible gene from Drosophila. J Mol Biol. 1986 Jun 20;189(4):617–631. doi: 10.1016/0022-2836(86)90492-4. [DOI] [PubMed] [Google Scholar]
  4. JOHNSTON O., KIRBY V. V., Jr Syndactyly of the ring and little finger. Am J Hum Genet. 1955 Mar;7(1):80–82. [PMC free article] [PubMed] [Google Scholar]
  5. Jaffe M., Tirosh E., Oren S. The dilemma in prenatal diagnosis of idiopathic microcephaly. Dev Med Child Neurol. 1987 Apr;29(2):187–189. doi: 10.1111/j.1469-8749.1987.tb02134.x. [DOI] [PubMed] [Google Scholar]
  6. KOMAI T., KISHIMOTO K., OZAKI Y. Genetic study of microcephaly based on Japanese material. Am J Hum Genet. 1955 Mar;7(1):51–65. [PMC free article] [PubMed] [Google Scholar]
  7. Kruglyak L., Daly M. J., Lander E. S. Rapid multipoint linkage analysis of recessive traits in nuclear families, including homozygosity mapping. Am J Hum Genet. 1995 Feb;56(2):519–527. [PMC free article] [PubMed] [Google Scholar]
  8. Lander E. S., Botstein D. Homozygosity mapping: a way to map human recessive traits with the DNA of inbred children. Science. 1987 Jun 19;236(4808):1567–1570. doi: 10.1126/science.2884728. [DOI] [PubMed] [Google Scholar]
  9. Martínez-Pastor M. T., Marchler G., Schüller C., Marchler-Bauer A., Ruis H., Estruch F. The Saccharomyces cerevisiae zinc finger proteins Msn2p and Msn4p are required for transcriptional induction through the stress response element (STRE). EMBO J. 1996 May 1;15(9):2227–2235. [PMC free article] [PubMed] [Google Scholar]
  10. Minet M., Lacroute F. Cloning and sequencing of a human cDNA coding for a multifunctional polypeptide of the purine pathway by complementation of the ade2-101 mutant in Saccharomyces cerevisiae. Curr Genet. 1990 Nov;18(4):287–291. doi: 10.1007/BF00318209. [DOI] [PubMed] [Google Scholar]
  11. Qazi Q. H., Reed T. E. A problem in diagnosis of primary versus secondary microcephaly. Clin Genet. 1973;4(1):46–52. doi: 10.1111/j.1399-0004.1973.tb01121.x. [DOI] [PubMed] [Google Scholar]
  12. Schuler G. D., Boguski M. S., Stewart E. A., Stein L. D., Gyapay G., Rice K., White R. E., Rodriguez-Tomé P., Aggarwal A., Bajorek E. A gene map of the human genome. Science. 1996 Oct 25;274(5287):540–546. [PubMed] [Google Scholar]
  13. Tejedor F., Zhu X. R., Kaltenbach E., Ackermann A., Baumann A., Canal I., Heisenberg M., Fischbach K. F., Pongs O. minibrain: a new protein kinase family involved in postembryonic neurogenesis in Drosophila. Neuron. 1995 Feb;14(2):287–301. doi: 10.1016/0896-6273(95)90286-4. [DOI] [PubMed] [Google Scholar]
  14. Tolmie J. L., McNay M., Stephenson J. B., Doyle D., Connor J. M. Microcephaly: genetic counselling and antenatal diagnosis after the birth of an affected child. Am J Med Genet. 1987 Jul;27(3):583–594. doi: 10.1002/ajmg.1320270311. [DOI] [PubMed] [Google Scholar]
  15. VAN DEN BOSCH J. Microcephaly in the Netherlands: a clinical and genetical study. Ann Hum Genet. 1959 Apr;23(2):91–116. doi: 10.1111/j.1469-1809.1958.tb01455.x. [DOI] [PubMed] [Google Scholar]
  16. Wood J. W., Johnson K. G., Omori Y. In utero exposure to the Hiroshima atomic bomb. An evaluation of head size and mental retardation: twenty years later. Pediatrics. 1967 Mar;39(3):385–392. [PubMed] [Google Scholar]

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