Linkage of recessive Robinow syndrome to a 4 cM interval on chromosome 9q22

• Published in: Human genetics Vol. 106; no. 3; pp. 351 - 354
• Main Authors: AFZAL, A. R, RAJAB, A, FENSKE, C, CROSBY, A, LAHIRI, N, TERNES-PEREIRA, E, MURDAY, V. A, HOULSTON, R, PATTON, M. A, JEFFERY, S
• Format: Journal Article
• Language: English
• Published: Heidelberg Springer 01-03-2000; Berlin; New York, NY
• Subjects: Biological and medical sciences; Bone and Bones - abnormalities; Brazil; Chromosome Mapping; Chromosomes, Human, Pair 9 - genetics; Consanguinity; Diseases of the osteoarticular system; Dwarfism - genetics; Genes, Recessive; Genetic Linkage; Haplotypes; Humans; Lod Score; Malformations and congenital and or hereditary diseases involving bones. Joint deformations; Medical sciences; Microsatellite Repeats; Oman; United Kingdom; Asia; Oman; Genetic mapping; Human; Linkage; Genetic marker; Family study; Diseases of the osteoarticular system; Robinow syndrome; Chromosome C9; Genetic disease; Heterogeneity; Allele; Gene; Consanguinity; Mesomelic dwarfism; Osteochondrodysplasia
• ISSN: 0340-6717; 1432-1203
• DOI: 10.1007/s004390051049

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.