{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,2]],"date-time":"2026-10-02T08:41:46Z","timestamp":1790930506299,"version":"4.1.0"},"reference-count":37,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2003,4,29]],"date-time":"2003-04-29T00:00:00Z","timestamp":1051574400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2003,7]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>The relationship between cystic fibrosis transmembrane conductance regulator gene (<jats:italic>CFTR<\/jats:italic>) mutations and congenital absence of the uterus and vagina (CAUV) was examined. <jats:italic>CFTR<\/jats:italic> mutations have previously been associated with congenital bilateral absence of the vas deferens (CBAVD). CBAVD is caused by a disruption in the vas deferens, a Wolffian duct derivative. Because the embryologic development of the M\u00fcllerian ducts directly depends on the prior normal development of the Wolffian ducts, the same gene products may be necessary for normal embryologic development of both ductal systems. This study evaluated the role of <jats:italic>CFTR<\/jats:italic> mutations in the development of CAUV. DNA samples from 25 patients with CAUV were tested for the presence of 33 of the most common <jats:italic>CFTR<\/jats:italic> mutations. Protein\u2010coding DNA fragments from the <jats:italic>CFTR<\/jats:italic> gene were amplified in vitro by the polymerase chain reaction (PCR) and analyzed for mutations using allele\u2010specific oligonucleotide (ASO) probes. Two patients were heterozygous for <jats:italic>CFTR<\/jats:italic> mutations. One was heterozygous for the W1282X mutation and the other was heterozygous for the \u0394F508 mutation. The incidence of the 33 <jats:italic>CFTR<\/jats:italic> mutations found in the patients with CAUV (8%) was twice that found in the general population (4%), but much less than the incidence of <jats:italic>CFTR<\/jats:italic> mutations in men with CBAVD (80%). This data suggests that it is unlikely for <jats:italic>CFTR<\/jats:italic> mutations to cause CAUV in females as they cause CBAVD in some males. Furthermore, the data suggest that CAUV in females may be the same disorder as CBAVD in males who do not have <jats:italic>CFTR<\/jats:italic> mutations. \u00a9 2003 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.20197","type":"journal-article","created":{"date-parts":[[2003,6,4]],"date-time":"2003-06-04T10:07:08Z","timestamp":1054721228000},"page":"72-76","source":"Crossref","is-referenced-by-count":50,"title":["Analysis of cystic fibrosis transmembrane conductance regulator gene mutations in patients with congenital absence of the uterus and vagina"],"prefix":"10.1002","volume":"120A","author":[{"given":"Lorna S.","family":"Timmreck","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mark R.","family":"Gray","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Barbara","family":"Handelin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bernice","family":"Allito","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elizabeth","family":"Rohlfs","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ann J.","family":"Davis","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gita","family":"Gidwani","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Richard H.","family":"Reindollar","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2003,4,29]]},"reference":[{"issue":"4","key":"e_1_2_5_2_1","doi-asserted-by":"crossref","first-page":"437","DOI":"10.1093\/oxfordjournals.humrep.a137666","article-title":"Embryological observations on the female genital tract","volume":"7","author":"Aci\u00e9n P","year":"1992","journal-title":"Hum Reprod"},{"issue":"13","key":"e_1_2_5_3_1","doi-asserted-by":"crossref","first-page":"1794","DOI":"10.1001\/jama.1992.03480130110034","article-title":"Congenital absence of the vas deferens, a primarily genital form of cystic fibrosis","volume":"267","author":"Anguiano A","year":"1992","journal-title":"JAMA"},{"key":"e_1_2_5_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/S1071-5576(97)86495-7"},{"key":"e_1_2_5_5_1","first-page":"79","article-title":"One hundred cases of congenital absence of the vagina","volume":"88","author":"Bryan AL","year":"1949","journal-title":"Surg Gynecol Obstet"},{"key":"e_1_2_5_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0015-0282(16)47182-7"},{"key":"e_1_2_5_7_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM199506013322204"},{"key":"e_1_2_5_8_1","doi-asserted-by":"publisher","DOI":"10.1007\/s004390050518"},{"key":"e_1_2_5_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-5347(01)64278-2"},{"key":"e_1_2_5_10_1","first-page":"331","article-title":"Detection of DNA sequence polymorphisms in human genomic DNA by using denaturing gradient gel blots","volume":"50","author":"Gray M","year":"1992","journal-title":"Am J Hum Genet"},{"key":"e_1_2_5_11_1","doi-asserted-by":"publisher","DOI":"10.7326\/0003-4819-85-2-224"},{"key":"e_1_2_5_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/ar.1090810102"},{"key":"e_1_2_5_13_1","first-page":"53","article-title":"Developmental basis of regenerative and pathologic growth in the uterus","volume":"35","author":"Gruenwald P","year":"1943","journal-title":"Arch Pathol"},{"key":"e_1_2_5_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/0002-9378(72)90878-2"},{"issue":"1","key":"e_1_2_5_15_1","first-page":"172A","article-title":"Mutation analysis of the HOXA13 gene in patients with congenital absence of the uterus and vagina","volume":"7","author":"Karnis MF","year":"2000","journal-title":"J Soc Gynecol Investig"},{"key":"e_1_2_5_16_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.2570460"},{"issue":"1","key":"e_1_2_5_17_1","first-page":"162A","article-title":"HOXA10 mutation analysis in women with congenital absence of the uterus and vagina","volume":"8","author":"Lalwani SI","year":"2001","journal-title":"J Soc Gynecol Invest"},{"key":"e_1_2_5_18_1","doi-asserted-by":"publisher","DOI":"10.1007\/s004040050225"},{"key":"e_1_2_5_19_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00318946"},{"key":"e_1_2_5_20_1","first-page":"272","article-title":"Is congenital bilateral absence of vas deferens a primary form of cystic fibrosis? 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