Cytogenetics Morphological | t(X;6)(q22;q13-14). |
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| Partial G-banding karyotype showing chromosomes 6 and X in a case of subungual exostosis. The arrows indicate the breakpoints. |
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Cytogenetics Molecular | A Probe specific for COL12A1 (RP11-815E21) identified the breakpoint in 6q14.1, as it showed splitting signals on der(X) and der(6). On the same chromosomes, these signals colocalized with the signals of RP11-815E21, encompassing the COL4A5 and IRS4 genes in band Xq22.3. |
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| FISH experiment revealing the breakpoint regions on both chromosomes 6 and X on a case of subungual exostosis. |
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Probes | RP11-815E21 (COL4A5 and IRS4); RP11-1072D13 (COL12A1). |
Variants | The breakpoint on chromosome 6 could be centromeric to COL4A5, in an unknown location. |
Gene Name | COL4A5 (collagen type IV alpha 5 chain) |
Location | Xq22.3 |
Note | It is currently unknown whether any of these two genes is involved in the pathogenesis of subungual exostosis. |
Dna / Rna | Genomic (chrX:107,569,810-107,827,431). Three transcript variants: isoform 1 (NM_000495), isoform 2 (NM_033380), isoform 3 (NM_03338). |
Protein | Three proteins, respectively encoded by the isoform 1 (695 aa), isoform 2 (1691 aa), and isoform 3 (1688 aa). |
Clonal chromosome abnormalities in a so-called Dupuytren's subungual exostosis. |
Dal Cin P, Pauwels P, Poldermans LJ, Sciot R, Van den Berghe H |
Genes, chromosomes & cancer. 1999 ; 24 (2) : 162-164. |
PMID 9885985 |
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Subungual exostosis of the third toe. |
Ilyas W, Geskin L, Joseph AK, Seraly MP |
Journal of the American Academy of Dermatology. 2001 ; 45 (6 Suppl) : S200-S201. |
PMID 11712058 |
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Imaging of osteochondroma: variants and complications with radiologic-pathologic correlation. |
Murphey MD, Choi JJ, Kransdorf MJ, Flemming DJ, Gannon FH |
Radiographics : a review publication of the Radiological Society of North America, Inc. 2000 ; 20 (5) : 1407-1434. |
PMID 10992031 |
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Rearrangement of the COL12A1 and COL4A5 genes in subungual exostosis: molecular cytogenetic delineation of the tumor-specific translocation t(X;6)(q13-14;q22). |
Storlazzi CT, Wozniak A, Panagopoulos I, Sciot R, Mandahl N, Mertens F, Debiec-Rychter M |
International journal of cancer. Journal international du cancer. 2006 ; 118 (8) : 1972-1976. |
PMID 16284948 |
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Distinct chromosomal rearrangements in subungual (Dupuytren) exostosis and bizarre parosteal osteochondromatous proliferation (Nora lesion). |
Zambrano E, Nosé V, Perez-Atayde AR, Gebhardt M, Hresko MT, Kleinman P, Richkind KE, Kozakewich HP |
The American journal of surgical pathology. 2004 ; 28 (8) : 1033-1039. |
PMID 15252309 |
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