{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,21]],"date-time":"2026-10-21T16:56:27Z","timestamp":1792601787150,"version":"4.5.0"},"reference-count":23,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2003,1,23]],"date-time":"2003-01-23T00:00:00Z","timestamp":1043280000000},"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":[[2003,6,15]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Alport syndrome (AS) is a hereditary nephropathy with hematuria progressing to end\u2010stage renal failure (ESRF), sensorineural deafness, and specific eye signs (lenticonus, macular flecks, and congenital cataracts). Inheritance is X\u2010linked in about 85% of the cases, caused by different mutations in the <jats:italic>COL4A5<\/jats:italic> gene. Rarely AS is seen in combination with diffuse leiomyomatosis (DL). DL is a tumorous process involving smooth muscle cells, mostly of the esophagus, but also of the tracheobronchial tree and the female genital tract. Characteristically, the patients have deletions of the 5\u2032\u2010end of both the <jats:italic>COL4A5<\/jats:italic> and the <jats:italic>COL4A6<\/jats:italic> genes, respectively. We here present a 9\u2010year\u2010old boy who was admitted because of a newly diagnosed sensorineural deafness. He was born with cataracts and presented symptoms of dysphagia and bronchial irritation in the first year of life. Macroscopic hematuria was first noticed at 2 years during a febrile infection. Since early childhood the boy suffered from severe constipation. Taking together these symptoms, the diagnosis of Alport syndrome with diffuse leiomyomatosis (AS\u2010DL) has to be considered. Genetic analysis demonstrated the predicted deletion of the <jats:italic>COL4A5<\/jats:italic>\/<jats:italic>COL4A6<\/jats:italic> genes. \u00a9 2003 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.20019","type":"journal-article","created":{"date-parts":[[2003,5,30]],"date-time":"2003-05-30T10:04:53Z","timestamp":1054289093000},"page":"381-385","source":"Crossref","is-referenced-by-count":37,"title":["Alport syndrome with diffuse leiomyomatosis"],"prefix":"10.1002","volume":"119A","author":[{"given":"Martina C.","family":"Anker","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Joachim","family":"Arnemann","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Katrin","family":"Neumann","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Peter","family":"Ahrens","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Helga","family":"Schmidt","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rainer","family":"K\u00f6nig","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2003,1,23]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1159\/000424813"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.97.12.6634"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1159\/000018860"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1038\/ki.1995.489"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1055\/s-2008-1071233"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0272-6386(12)80425-2"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1053\/gast.2001.20883"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1136\/adc.20.104.176"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/4.1.99"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1159\/000134666"},{"key":"e_1_2_6_12_1","first-page":"673","article-title":"Somatic deletion of the 5\u2032 ends of both the Col4A5 and Col4A6 genes in sporadic leiomyoma of the esophagus","volume":"152","author":"Heidet L","year":"1998","journal-title":"Am J Pathol"},{"key":"e_1_2_6_13_1","doi-asserted-by":"crossref","first-page":"649","DOI":"10.1681\/ASN.V114649","article-title":"X\u2010linked Alport Syndrome: Natural history in 195 families and genotype\u2010phenotype correlations in males","volume":"11","author":"Jais JP","year":"2000","journal-title":"J Am Soc Nephrol"},{"key":"e_1_2_6_14_1","first-page":"277","article-title":"La leiomyomatose oesophagienne diffuse. 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