Assignment of gene responsible for progressive pseudorheumatoid dysplasia to chromosome 6 and examination of COL10A1 as candidate gene. Eur J Hum Genet 1998;6(3):251-6
Date
10/22/1998Pubmed ID
9781029DOI
10.1038/sj.ejhg.5200187Scopus ID
2-s2.0-0031818446 (requires institutional sign-in at Scopus site) 18 CitationsAbstract
Progressive pseudorheumatoid dysplasia is an autosomal recessive skeletal dysplasia with radiographic changes in the spine similar to Spondyleopiphyseal dysplasia tarda and clinical, though not radiographic resemblance to rheumatoid arthritis. About two-thirds of the reported patients are of Arabic and Mediterranean origin which reflects the relative high incidence in this population. We performed homozygosity mapping utilising the DNA pooling approach to map progressive pseudorheumatoid dysplasia to a chromosomal region on the long arm of chromosome 6. We examined a possible candidate gene in the same region of linkage, namely COL10A1, for alterations in this disorder. We did not identify any mutations in our family, but did not totally exclude COL10A1 gene from being the disease-causing gene.
Author List
el-Shanti H, Murray JC, Semina EV, Beutow KH, Scherpbier T, al-Alami JAuthor
Elena V. Semina PhD Chief, Professor in the Ophthalmology and Visual Sciences department at Medical College of WisconsinMESH terms used to index this publication - Major topics in bold
Base SequenceChromosome Mapping
Chromosomes, Human, Pair 6
Collagen
DNA Primers
Female
Genetic Linkage
Homozygote
Humans
Male
Osteochondrodysplasias
Pedigree
