A gene for Meckel syndrome maps to chromosome 11q13

Am J Hum Genet. 1998 Oct;63(4):1095-101. doi: 10.1086/302062.

Abstract

Meckel syndrome (MKS) is a rare autosomal recessive lethal condition of unknown origin, characterized by (i) an occipital meningo-encephalocele with (ii) enlarged kidneys, with multicystic dysplasia and fibrotic changes in the portal area of the liver and with ductal proliferation, and (iii) postaxial polydactyly. A gene responsible for MKS in Finland has been mapped to chromosome 17q21-q24. Studying a subset of Middle Eastern and northern African MKS families, we have recently excluded the chromosome 17 region and have suggested a genetic heterogeneity. In the present study, we report on the mapping of a second MKS locus (MKS2) to chromosome 11q13, by homozygosity mapping in seven families that do not show linkage to chromosome 17q21-q24 (maximum LOD score 4.41 at recombination fraction .01). Most interestingly, the affected fetuses of southern Tunisian ancestry shared a particular haplotype at loci D11S911 and D11S906, suggesting that a founder effect is involved. Our observation gives support to the clinical and genetic heterogeneity of MKS.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Abnormalities, Multiple / ethnology
  • Abnormalities, Multiple / genetics*
  • Africa, Northern / ethnology
  • Chromosome Mapping
  • Chromosomes, Human, Pair 11*
  • Consanguinity
  • Encephalocele / genetics
  • Female
  • Genetic Markers
  • Haplotypes
  • Homozygote
  • Humans
  • Liver Diseases / genetics
  • Male
  • Microsatellite Repeats
  • Middle East / ethnology
  • Pedigree
  • Polydactyly / genetics

Substances

  • Genetic Markers