A gene for Meckel syndrome maps to chromosome 11q13

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J Roume1, E Genin, V Cormier-Daire

  • 1Unité de Recherches sur les Handicaps Génétiques de lEnfant, INSERMU. 393, France.

American Journal of Human Genetics
|October 3, 1998
PubMed

Insights

Meckel syndrome (MKS) is a rare genetic disorder. Researchers identified a second gene locus (MKS2) on chromosome 11q13, indicating genetic heterogeneity in MKS.

Area of Science:

  • Medical Genetics
  • Developmental Biology
  • Human Genetics

Background:

  • Meckel syndrome (MKS) is a rare, lethal autosomal recessive condition.
  • MKS is characterized by occipital meningo-encephalocele, enlarged kidneys with multicystic dysplasia, liver fibrosis, and postaxial polydactyly.
  • Previous studies mapped a gene for MKS to chromosome 17q21-q24, but genetic heterogeneity was suspected.

Purpose of the Study:

  • To identify additional genetic loci responsible for Meckel syndrome.
  • To investigate the genetic heterogeneity of Meckel syndrome in families not linked to the chromosome 17 locus.

Main Methods:

  • Homozygosity mapping was performed on seven MKS families.
  • Linkage analysis was conducted to exclude the chromosome 17 region.
  • Haplotype analysis was used to investigate potential founder effects in specific populations.

Main Results:

  • A second MKS locus, designated MKS2, was mapped to chromosome 11q13.
  • Linkage to chromosome 17q21-q24 was excluded in these families (maximum LOD score 4.41 at recombination fraction 0.01).
  • Affected fetuses of southern Tunisian ancestry shared a specific haplotype, suggesting a founder effect.

Conclusions:

  • Meckel syndrome exhibits genetic heterogeneity, with at least two distinct loci identified.
  • The MKS2 locus on chromosome 11q13 is responsible for MKS in some families.
  • A founder effect may contribute to the prevalence of MKS in certain populations, such as those of southern Tunisian ancestry.

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