Genetic heterogeneity of Meckel syndrome

J Med Genet. 1997 Dec;34(12):1003-6. doi: 10.1136/jmg.34.12.1003.

Abstract

Meckel syndrome (MKS) is a lethal, autosomal recessive condition characterised by an occipital meningoencephalocele, enlarged kidneys with multicystic dysplasia, fibrotic changes of the liver in the portal area with ductal proliferation, and postaxial polydactyly. Recently, a MKS gene has been mapped to chromosome 17q21-q24 in Finnish families, with no evidence of locus heterogeneity in this population. Here, we report the exclusion of chromosome 17q21-q24 in eight typical MKS families of North African and Middle Eastern ancestry and provide evidence for genetic heterogeneity of this condition.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Encephalocele / genetics
  • Female
  • Genetic Variation*
  • Humans
  • Male
  • Pedigree
  • Polycystic Kidney Diseases / genetics
  • Polydactyly / genetics