A gene for ataxic cerebral palsy maps to chromosome 9p12-q12

Eur J Hum Genet. 2000 Apr;8(4):267-72. doi: 10.1038/sj.ejhg.5200445.

Abstract

Cerebral palsy (CP) has an incidence of approximately 1 in 750 births, although this varies between ethnic groups. Genetic forms of the disease account for about 2% of cases in most countries, but contribute a larger proportion in certain sub-types of the condition and in populations with a large proportion of consanguineous marriages. Ataxic cerebral palsy accounts for 5-10% of all forms of CP and it is estimated that approximately 50% of ataxic cerebral palsy is inherited as an autosomal recessive trait. We have identified a complex consanguineous Asian pedigree with four children in two sibships affected with ataxic cerebral palsy and have used homozygosity mapping to map the disorder in this family. A genome-wide search was performed using 343 fluorescently labelled polymorphic markers and linkage to chromosome 9p12-q12 was demonstrated. A maximum Lod score of 3.4 was observed between the markers D9S50 and D9S167 using multipoint analysis, a region of approximately 23cM. We have identified a family that segregates both ataxic CP and ataxic diplegia and have mapped the genetic locus responsible in this family to chromosome 9p12-q12. The identification of gene(s) involved in the aetiology of CP will offer the possibility of prenatal/premarital testing to some families with children affected with the disorder and will greatly increase our understanding of the development of the control of motor function.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Alleles
  • Ataxia / pathology*
  • Cerebral Palsy / genetics*
  • Cerebral Palsy / pathology
  • Child, Preschool
  • Chromosome Mapping
  • Chromosomes, Human, Pair 9 / genetics*
  • DNA / chemistry
  • DNA / genetics
  • DNA Mutational Analysis
  • Family Health
  • Female
  • Genetic Linkage
  • Humans
  • Lod Score
  • Male
  • Microsatellite Repeats
  • Pedigree

Substances

  • DNA