Van Buchem disease (hyperostosis corticalis generalisata) maps to chromosome 17q12-q21

Article Abstract:

In the the Netherlands 11 van Buchem disease (hyperostosis corticalis generalisata) patients and their very inbred family have been studied using highly polymorphic microsatellite markers, which showed linkage to marker D17S1299 on chromosome 17q12-21. Analysis of other markers of the region led to a region of less than 1 cM between D17S1787 and D17S934. The marker that did not show recombination with the locus in question was an intragenic marker of the thyroid-hormone receptor alpha1 gene. Thyroid hormones relate to bone resorption: understanding the mechanism for van Buchem's could lead to understanding what controls bone density and pathologies. Van Buchem disease is an autosomal recessive disorder that brings skull, rib, mandible, and clavicle hyperostosis and diaphyseal cortices of long bones. The most notable clinical features are thickness of the skull and jaw enlargement. Hearing loss, facial nerve palsy, and optic atrophy may result. About 9 generations ago the family studied had a common ancestor; they live in a small, isolated ethnic group.

Netherlands, Health aspects, Genetic disorders, Consanguinity

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Localization of the gene for sclerosteosis to the van Buchem disease-gene region on chormosome 17q12-q21

Article Abstract:

The gene for sclerosteosis has been localized to chromosome 17q12-q21, in the same region as the gene associated with van Buchem disease. The two conditions are clinically similar, although gigantism and hand abnormalities are associated with sclerosteosis but not with van Buchem disease. Evidence suggests allelic status for the two conditions. Dutch ancestry is associated with both conditions.

Abnormalities, Skull, Dysplasia

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A new autosomal recessive form of stickler syndrome is caused by a mutation in the COL9A1 gene

Article Abstract:

A Moroccan family with autosomal recessive Stickler syndrome is clinically investigated for ear, nose and throat, ophthalmologic and radiological abnormalities. It was found that COL9A1, the fourth identified gene, could cause Stickler syndrome.

Science & research, Care and treatment, Research, Diagnosis, Causes of, Gene mutations, Gene mutation, Dominance (Genetics), Clinical report, Stickler syndrome

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