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.
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Authors | A R Afzal, A Rajab, C Fenske, A Crosby, N Lahiri, E Ternes-Pereira, V A Murday, R Houlston, M A Patton, S Jeffery |
Journal | Human genetics
(Hum Genet)
Vol. 106
Issue 3
Pg. 351-4
(Mar 2000)
ISSN: 0340-6717 [Print] Germany |
PMID | 10798366
(Publication Type: Journal Article, Research Support, Non-U.S. Gov't)
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Topics |
- 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
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