Localization of the Gene for Sclerosteosis to the van Buchem Disease–Gene Region on Chromosome 17q12–q21
| Autor: | Wim Van Hul, Patrick Willems, Suvimol Hill, Wendy Balemans, Cristiane Freire Alves, Frederik G. Dikkers, Constantine A. Stratakis, Filip Vanhoenacker, Jenneke van den Ende, AF Paes-Alves, Neli de Almeida-Melo |
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| Přispěvatelé: | Faculteit Medische Wetenschappen/UMCG |
| Rok vydání: | 1999 |
| Předmět: |
AUTOSOMAL DOMINANT OSTEOSCLEROSIS
Adult Male Hyperostosis Genotype Genetic Linkage FEATURES Consanguinity Biology Gene mapping HYPEROSTOSIS CORTICALIS GENERALISATA medicine Genetics Humans Genetics(clinical) Genetics (clinical) Aged Bone Diseases Developmental Chromosome Mapping Chromosome 17 medicine.disease Osteochondrodysplasia Gigantism Pedigree Chromosome 17 (human) Chromosomal region Female Generalized osteosclerosis Sclerosteosis van Buchem disease Bone density Tomography X-Ray Computed Research Article Chromosomes Human Pair 17 |
| Zdroj: | American Journal of Human Genetics, 64(6), 1661-1669. CELL PRESS The American journal of human genetics Repositório Institucional da UFBA Universidade Federal da Bahia (UFBA) instacron:UFBA |
| ISSN: | 0002-9297 |
| DOI: | 10.1086/302416 |
| Popis: | Texto completo. Acesso restrito. p. 1661–1669 Submitted by Santiago Fabio (fabio.ssantiago@hotmail.com) on 2013-07-31T18:06:01Z No. of bitstreams: 1 111111111a.pdf: 683501 bytes, checksum: 978acc94ebde8e6074df25c384a75ff8 (MD5) Approved for entry into archive by Rodrigo Meirelles (rodrigomei@ufba.br) on 2013-11-01T11:57:18Z (GMT) No. of bitstreams: 1 111111111a.pdf: 683501 bytes, checksum: 978acc94ebde8e6074df25c384a75ff8 (MD5) Made available in DSpace on 2013-11-01T11:57:18Z (GMT). No. of bitstreams: 1 111111111a.pdf: 683501 bytes, checksum: 978acc94ebde8e6074df25c384a75ff8 (MD5) Previous issue date: 1999 Sclerosteosis is an uncommon, autosomal recessive, progressive, sclerosing, bone dysplasia characterized by generalized osteosclerosis and hyperostosis of the skeleton, affecting mainly the skull and mandible. In most patients this causes facial paralysis and hearing loss. Other features are gigantism and hand abnormalities. In the present study, linkage analysis in two consanguineous families with sclerosteosis resulted in the assignment of the sclerosteosis gene to chromosome 17q12-q21. This region was analyzed because of the recent assignment to this chromosomal region of the gene causing van Buchem disease, a rare autosomal recessive condition with a hyperostosis similar to sclerosteosis. Because of the clinical similarities between sclerosteosis and van Buchem disease, it has previously been suggested that both conditions might be caused by mutations in the same gene. Our study now provides genetic evidence for this hypothesis. Salvador |
| Databáze: | OpenAIRE |
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