A Known SOST Gene Mutation Causes Sclerosteosis in a Familial and an Isolated Case from Brazilian Origin
- 1 December 2008
- journal article
- Published by Mary Ann Liebert Inc in Genetic Testing
- Vol. 12 (4), 475-479
- https://doi.org/10.1089/gte.2008.0036
Abstract
Sclerosteosis is a severe, rare, autosomal recessive bone condition that is characterized by a progressive craniotubular hyperostosis. The main features are a significant sclerosis of the long bones, ribs, pelvis, and skull, leading to facial distortion and entrapment of cranial nerves. Clinical features include a tall stature, nail dysplasia, cutaneous syndactyly of some fingers, and raised intracranial pressure. The sclerosteosis gene has been mapped to chromosome 17q12-21 and is currently known as the SOST gene encoding the sclerostin protein. Here, we report on one familial and one isolated case of Brazilian origin with the clinical and molecular diagnosis of sclerosteosis. The radiological and clinical features are described, and the diagnosis of sclerosteosis was confirmed in both cases by mutation analysis of the SOST gene showing a homozygous nonsense mutation (Trp124X) in the two patients. We reported this mutation previously in other sclerosteosis patients from a consanguineous Brazilian family. Interestingly, all three families were from the same state in Brazil, but they denied familial relationship. These patients confirm the clinical picture as found in other cases with a loss of function mutation in the SOST gene.Keywords
This publication has 19 references indexed in Scilit:
- A generalized skeletal hyperostosis in two siblings caused by a novel mutation in the SOST geneBone, 2005
- Identification of a 52 kb deletion downstream of the SOST gene in patients with van Buchem diseaseJournal of Medical Genetics, 2002
- Bone Dysplasia Sclerosteosis Results from Loss of the SOST Gene Product, a Novel Cystine Knot–Containing ProteinAmerican Journal of Human Genetics, 2001
- Increased bone density in sclerosteosis is due to the deficiency of a novel secreted protein (SOST)Human Molecular Genetics, 2001
- Localization of the Gene for Sclerosteosis to the van Buchem Disease–Gene Region on Chromosome 17q12–q21American Journal of Human Genetics, 1999
- Sclerosteosis in a Spanish male: first report in a person of Mediterranean origin.Journal of Medical Genetics, 1994
- Sclerosteosis.Journal of Medical Genetics, 1988
- The syndromic status of sclerosteosis and van Buchem diseaseClinical Genetics, 1984
- Sclerosteosis — An autosomal recessive disorderClinical Genetics, 1977
- The Clinical Features of SclerosteosisAnnals of Internal Medicine, 1976