{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,6]],"date-time":"2025-10-06T05:11:10Z","timestamp":1759727470289,"version":"build-2065373602"},"reference-count":11,"publisher":"BMJ","issue":"9","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1995,9]]},"abstract":"<jats:p>Generalised recessive dystrophic epidermolysis bullosa (EB) is a severe inherited disease in which patients suffer from blistering and scarring of the skin and mucous membranes after minor mechanical trauma. Tight genetic linkage has been established to the type VII collagen gene (COL7A1) at 3p21, with no evidence of locus heterogeneity. Several COL7A1 mutations have now been identified in recessive dystrophic EB patients. Prenatal diagnosis has been performed by examination of a fetal skin biopsy taken at about 16 weeks' gestation, and relies on identification of characteristic ultrastructural and immunohistochemical changes. We have now achieved a first trimester prenatal diagnosis using intragenic and flanking COL7A1 markers in a pregnancy at risk for recessive dystrophic EB. Segregation of the informative markers predicted the baby would be an unaffected carrier. The pregnancy continued to term and a healthy baby was born, confirming this result.<\/jats:p>","DOI":"10.1136\/jmg.32.9.749","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T15:23:16Z","timestamp":1226330596000},"page":"749-750","source":"Crossref","is-referenced-by-count":10,"title":["Use of type VII collagen gene (COL7A1) markers in prenatal diagnosis of recessive dystrophic epidermolysis bullosa."],"prefix":"10.1136","volume":"32","author":[{"given":"M G","family":"Dunnill","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"C H","family":"Rodeck","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A J","family":"Richards","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"D","family":"Atherton","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"B D","family":"Lake","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M","family":"Petrou","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"R A","family":"Eady","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"F M","family":"Pope","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[1995,9,1]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"366","DOI":"10.1111\/1523-1747.ep12471830","article-title":"Structural variations in anchoring fibrils in dystrophic epidermolysis bullosa: correlation with type VII collagen expression","volume":"100","author":"McGrath, J.A.; Ishada-Yamamoto, A.; O'Grady, A.; Leigh, I.M.; Eady, R.A.J.","year":"1993","unstructured":"McGrath JA, Ishada-Yamamoto A, O'Grady A, Leigh IM, Eady RAJ. Structural variations in anchoring fibrils in dystrophic epidermolysis bullosa: correlation with type VII collagen expression. J Invest Dermatol 1993;100:366-72.","journal-title":"J Invest Dermatol"},{"key":"ref_2","first-page":"1032","article-title":"Genetic linkage of recessive dystrophic epidermolysis bullosa to the type VII collagen gene","volume":"90","author":"Hovnanian, A.; Duquesnoy, P.; Blanchet-Bardon, C.","year":"1992","unstructured":"Hovnanian A, Duquesnoy P, Blanchet-Bardon C, et al. Genetic linkage of recessive dystrophic epidermolysis bullosa to the type VII collagen gene. _7 Clin Invest 1992;90: 1032-6."},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"745","DOI":"10.1136\/jmg.31.10.745","article-title":"Genetic linkage to the type VII collagen gene (COL7Al) in 26 families with generalised recessive dystrophic epidermolysis bullosa and anchoring fibril abnormalities","volume":"31","author":"Dunnill, M.G.S.; Richards, A.J.; Milana, G.","year":"1994","unstructured":"Dunnill MGS, Richards AJ, Milana G, et al. Genetic linkage to the type VII collagen gene (COL7Al) in 26 families with generalised recessive dystrophic epidermolysis bullosa and anchoring fibril abnormalities. J Med Genet 1994;31: 745-8.","journal-title":"J Med Genet"},{"key":"ref_4","first-page":"289","article-title":"Recurrent nonsense mutations within the type VII collagen gene in patients with severe recessive dystrophic epidermolysis bullosa","volume":"55","author":"Hovnanian, A.; Hilal, L.; Blanchet-Bardon, C.","year":"1994","unstructured":"Hovnanian A, Hilal L, Blanchet-Bardon C, et al. Recurrent nonsense mutations within the type VII collagen gene in patients with severe recessive dystrophic epidermolysis bullosa. Am J Hum Genet 1994;55:289-96.","journal-title":"Am J Hum Genet"},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"287","DOI":"10.1038\/ng1193-287","article-title":"A homozygous insertion-deletion in the type VII collagen gene (COL7A1) in Hallopeau-Siemens dystrophic epidermolysis bullosa","volume":"5","author":"Hilal, L.; Rochat, A.; Duquesnoy, P.","year":"1993","unstructured":"Hilal L, Rochat A, Duquesnoy P, et al. A homozygous insertion-deletion in the type VII collagen gene (COL7A1) in Hallopeau-Siemens dystrophic epidermolysis bullosa. Nature Genet 1993;5:287-93.","journal-title":"Nature Genet"},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"160","DOI":"10.1006\/geno.1994.1238","article-title":"Premature termination codons in the type VII collagen gene (COL7A1) underlie severe, mutilating recessive dystrophic epidermolysis bullosa","volume":"21","author":"Christiano, A.M.; Anhalt, G.; Gibbons, S.; Bauer, E.A.; Uitto, J.","year":"1994","unstructured":"Christiano AM, Anhalt G, Gibbons, S, Bauer EA, Uitto J. Premature termination codons in the type VII collagen gene (COL7A1) underlie severe, mutilating recessive dystrophic epidermolysis bullosa. Genomics 1994;21:160-8.","journal-title":"Genomics"},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"1693","DOI":"10.1093\/hmg\/3.9.1693","article-title":"A novel homozygous point mutation in the collagen VII gene (COL7A1) in two cousins with recessive dystrophic epidermolysis bullosa","volume":"3","author":"Dunnill, M.G.S.; Richards, A.J.; Milana, G.; Mollica, F.; Eady, R.A.J.; Pope, F.M.","year":"1994","unstructured":"Dunnill MGS, Richards AJ, Milana G, Mollica F, Eady RAJ, Pope FM. A novel homozygous point mutation in the collagen VII gene (COL7A1) in two cousins with recessive dystrophic epidermolysis bullosa. Hum Mol Genet 1994;3: 1693-4.","journal-title":"Hum Mol Genet"},{"key":"ref_8","doi-asserted-by":"crossref","first-page":"949","DOI":"10.1016\/S0140-6736(80)91404-X","article-title":"Prenatal diagnosis of epidermolysis bullosa letalis","volume":"i:","author":"Rodeck, C.H.; Easy, R.A.J.; Gosden, C.","year":"1980","unstructured":"Rodeck CH, Easy RAJ, Gosden C. Prenatal diagnosis of epidermolysis bullosa letalis. Lancet 1980;i:949-52.","journal-title":"Lancet"},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"3761","DOI":"10.1093\/nar\/19.13.3761-a","article-title":"Polymerase chain reaction (PCR) for detection of Msp I polymorphism at the D3S2 locus","volume":"19","author":"Ganley, P.; Rabbits, P.H.","year":"1991","unstructured":"Ganley P, Rabbits PH. Polymerase chain reaction (PCR) for detection of Msp I polymorphism at the D3S2 locus. Nucleic Acids Res 1991;19:3761.","journal-title":"Nucleic Acids Res"},{"key":"ref_10","doi-asserted-by":"crossref","first-page":"20256","DOI":"10.1016\/S0021-9258(17)31984-1","article-title":"Cloning of human type VII collagen. Complete primary sequence of the axl (VII) chain and identification of intragenic polymorphisms","volume":"269","author":"Christiano, A.M.; Greenspan, D.S.; Lee, S.; Uitto, J.","year":"1994","unstructured":"Christiano AM, Greenspan DS, Lee S, Uitto J. Cloning of human type VII collagen. Complete primary sequence of the axl (VII) chain and identification of intragenic polymorphisms. J Biol Chem 1994;269:20256-62.","journal-title":"J Biol Chem"},{"key":"ref_11","doi-asserted-by":"crossref","first-page":"456","DOI":"10.1111\/1523-1747.ep12605893","article-title":"DNAbased prenatal diagnosis of generalized recessive dystrophic epidermolysis bullosa in six pregnancies at risk for recurrence","volume":"104","author":"Hovnanian, A.; Hilal, L.; Blanchet-Bardon, C.","year":"1995","unstructured":"Hovnanian A, Hilal L, Blanchet-Bardon C, et al. DNAbased prenatal diagnosis of generalized recessive dystrophic epidermolysis bullosa in six pregnancies at risk for recurrence. 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