LINE-1 elements at the sites of molecular rearrangements in Alport syndrome-diffuse leiomyomatosis

Article Abstract:

Alport syndrome (AS) may be associated with diffuse leiomyomatosis (DL). Two deletion junctions have been isolated and characterized. One came from a nonhomologous recombination that fused a LINE-1 (L1) repetitive element in intron 1 of COL4A5 to intron 2 of COL4A6 to bring about a 13.4-kb deletion. The patient had already been studied and reported on. The other came from unequal homologous recombination between the same L1 and a colinear L1 element in intron 2 of COL4A6 and a deletion of less than 40 kb resulted. This was in a family not described before. L1 elements have had a role in the emergence of the locus as a site of frequent recombinations by various mechanisms which lead to AS-DL through disruption of type IV collagen and maybe other genes not yet identified as seen from deletions of only 13.4 kb.

Italy, Canada, Health aspects, Usage, Genetic recombination, Chromosome mapping, Leiomyoma, Kidney diseases

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Topoisomerase I and II consensus sequences in a 17-kb deletion junction of the COL4A5 and COL4A6 genes and immunohistochemical analysis of esophageal Leiomyomatosis associated with Alport syndrome

Article Abstract:

Diffuse esophageal leiomyomatosis (DL) may be associated with X-linked Alport syndrome (AS), a nephropathy that comes from mutations of the COL4A5 gene. A DL/AS deletion and the first characterization of the breakpoint sequences have been identified. A deletion takes out the first coding exon of COL4A5 and the first two coding exons of COL4A6. Breakpoints have the same sequence, which is closely homologous to the consensus sequences of topoisomerases I and II. It appears that a third gene and/or the regulatory elements for it, may regulate smooth-muscle-cell proliferation. Abnormal cell proliferation characterizes DL, a benign smooth-muscle-cell tumor.

Observations, Esophagus, Immunohistochemistry, Gastrointestinal tumors

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A gene for fluctuating, progressive autosomal dominant nonsyndromic hearing loss, DFNA16, maps to chromosome 2q23-24.3

Article Abstract:

Fluctuating, progressive autosomal dominant nonsyndromic hearing loss (ADNSHL) has been linked to a sixteenth gene, DFNA16, a gene that maps to chromosome 2q23-24.3. DFNA16 is unique and gives rise to the only form of ADNSHL with a phenotype involved in rapidly progressing and fluctuating hearing loss that seems to respond to steroid therapy. It may be possible to stabilize hearing through medical intervention after the biophysiology of DFNA16-related deafness is better understood. Several voltage-gated sodium-channel genes have been localized to the DFNA16 interval.

Belgium, Deafness

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