Diaphyseal medullary stenosis with malignant fibrous histiocytoma: a hereditary bone dysplasia/cancer syndrome maps to 9p21-22

Article Abstract:

Diaphyseal medullary stenosis with malignant fibrous histiocytoma (DMS-MFH) is a hereditary bone dysplasia/cancer syndrome. The cancer syndrome is rare, autosomal, dominant, and of unknown etiology and is characterized by cortical growth abnormalities, bone infarctions, pathological fractures and, eventually, painful debilitation. Of those with DMS, 35% develop MFH, a very malignant bone sarcoma. A genome scan for the DMS-MFH linked the syndrome to a locale of about 3 cM on chromosome 9p21-22 with a maximal two-point LOD score of 5.49. The region had already been found to be the location of chromosome anomalies in several other malignancies. It has a number of genes which have protein products related to growth regulation. Identification of the rare familial sarcoma-causing gene likely will give information on the cause of the less rare nonfamiliar form of MFH.

Australia, Bones, Cataract, Growth regulators, Cataracts, Skin cancer, Dermatofibroma, Musculoskeletal abnormalities

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Acromesomelic dysplasia Maroteaux type maps to human chromosome 9

Article Abstract:

Genetic mapping studies carried out in four families in which acromesomelic dysplasia Maroteaux type (AMDM) is found have shown that it maps to human chromosome 9. AMDM is an autosomal recessive osteochondrodysplasia. In three of the four families studied, the affected children are from consanguineous marriages. They are assumed to be homozygous by descent for the region with the AMDM locus. It can now be seen that AMDM is genetically different from the two other mapped acromesomelic dysplasias. These dysplasias are skeletal disorders and affect the middle and distal parts of the appendicular skeleton disproportionately.

Netherlands, Germany, Acromegaly

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Brachydactyly type B: clinical description, genetic mapping to chromosome 9q, and evidence for a shared ancestral mutation

Article Abstract:

Autosomal dominant brachydactyly type B (BDB), which has been studied in two families of English ancestry and linked to chromosome 9q, seems to have a common founder for involved families with that ethnic background. BDB is characterized by aplasia of the nails with rudimentary or missing distal and middle phalanges, sometimes asymmetrical.

China, Canada, Hand, Foot, Fingernails, Foot deformities

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