Linkage of Recessive Robinow Syndrome to a 4 cM Interval on Chromosome 9q22

Hum Genet. 2000 Mar;106(3):351-4. doi: 10.1007/s004390051049.

Abstract

Autosomal recessive Robinow syndrome is a form of mesomelic dwarfism with multiple rib and vertebral anomalies. Using autozygosity mapping we have identified a genetic locus (RBNW1) for this syndrome at chromosome 9q22 in seven consanguineous families from Oman. Our results indicate that the gene lies within a 4 cM region between markers D9S1836 and D9S1803 (maximum multipoint LOD score 12.3). In addition, we have analysed two non-Omani families with autosomal recessive Robinow and found no genetic heterogeneity.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Bone and Bones / abnormalities
  • Brazil
  • Chromosome Mapping
  • Chromosomes, Human, Pair 9 / genetics*
  • Consanguinity
  • Dwarfism / genetics*
  • Genes, Recessive
  • Genetic Linkage
  • Haplotypes
  • Humans
  • Lod Score
  • Microsatellite Repeats
  • Oman
  • United Kingdom