Dominant hereditary inclusion-body myopathy gene (IBM3) maps to chromosome region 17p13.1

Article Abstract:

The dominant hereditary (or familial) inclusion-body myopathy (HIBM) gene (IBM3) maps to chromosome region 17p13.1. A total-genome scan has been carried out with 161 polymorphic markers with DNA from 40 members from a family with 19 affected people in Sweden. One of the myosin heavy-chain (MHC) genes clustered in a region close to the 2-Mb IBM3 region. The MHC gene cluster may be related to the disorder. HIBM is an early-adult-onset heterogeneous group of disorders characterized by muscle fibers with rimmed vacuoles and inclusions of 15-21-nm-diameter filaments and is autosomal dominant.

Sweden, Usage, Genetic aspects, Chromosome mapping, Muscle diseases, Muscular diseases

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Campomelic dysplasia translocation breakpoints are scattered over 1 Mb proximal to SOX9 (ital): evidence for an extended control region

Article Abstract:

Campomelic dysplasia (CD) translocation breakpoints are seen over a 1-Mb region proximal to SOX9 (ital) and evidence for an extended control region exists. CD is a skeletal malformation syndrome that may or may not include sex reversal and in which severe respiratory problems that come soon after birth usually lead to neonatal death. The region 1.2 Mb upstream of the SOX9 gene was cloned in overlapping bacterial-artificial-chromosome and P1-artificial-chromosome clones and sequence-tagged-site-content mapping was used in somatic-cell hybrids, as was FISH.

United States, Germany, Poland, Abnormalities, Respiratory system, Skeleton, Respiratory organs

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