{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,20]],"date-time":"2026-07-20T10:51:01Z","timestamp":1784544661929,"version":"3.55.0"},"reference-count":38,"publisher":"BMJ","issue":"4","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1998,4]]},"abstract":"<jats:p>We describe a family with four members, a mother, two sons, and a daughter, who show clinical features consistent with X linked Alport syndrome. The two males presented with additional features including mental retardation, dysmorphic facies with marked midface hypoplasia, and elliptocytosis. The elliptocytosis was not associated with any detectable abnormalities in red cell membrane proteins; red cell membrane stability and rigidity was normal on ektacytometry. Molecular characterisation suggests a submicroscopic X chromosome deletion encompassing the entire COL4A5 gene. We propose that the additional abnormalities found in the affected males of this family are attributable to deletion or disruption of X linked recessive genes adjacent to the COL4A5 gene and that this constellation of findings may represent a new X linked contiguous gene deletion syndrome.<\/jats:p>","DOI":"10.1136\/jmg.35.4.273","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T15:37:21Z","timestamp":1226331441000},"page":"273-278","source":"Crossref","is-referenced-by-count":56,"title":["Alport syndrome, mental retardation, midface hypoplasia, and elliptocytosis: a new X linked contiguous gene deletion syndrome?"],"prefix":"10.1136","volume":"35","author":[{"given":"J J","family":"Jonsson","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A","family":"Renieri","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"P G","family":"Gallagher","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C E","family":"Kashtan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"E M","family":"Cherniske","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M","family":"Bruttini","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M","family":"Piccini","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"F","family":"Vitelli","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A","family":"Ballabio","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"B R","family":"Pober","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[1998,4,1]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"1445","DOI":"10.1038\/ki.1996.459","article-title":"Alport syndrome","volume":"50","author":"Kashtan, C.E.; Michael, A.F.","year":"1996","unstructured":"Kashtan CE, Michael AF. Alport syndrome. Kidney Int 1996;50: 1445-63.","journal-title":"Kidney Int"},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"1224","DOI":"10.1126\/science.2349482","article-title":"Identification of mutations in the COL4A5 collagen gene in Alport syndrome","volume":"248","author":"Barker, D.F.; Hostikka, S.L.; Zhou, J.","year":"1990","unstructured":"Barker DF, Hostikka SL, Zhou J, et al. Identification of mutations in the COL4A5 collagen gene in Alport syndrome. Science 1990;248:1224-7.","journal-title":"Science"},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"77","DOI":"10.1038\/ng0994-77","article-title":"Identification of mutations in the alpha 3(IV) and alpha 4(IV) collagen genes in autosomal recessive Alport syndrome","volume":"8","author":"Mochizuki, T.; Lemmink, H.H.; Mariyama, M.","year":"1994","unstructured":"Mochizuki T, Lemmink HH, Mariyama M, et al. Identification of mutations in the alpha 3(IV) and alpha 4(IV) collagen genes in autosomal recessive Alport syndrome. Nat Genet 1994;8:77-81.","journal-title":"Nat Genet"},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"672","DOI":"10.1038\/ki.1985.63","article-title":"Genetic heterogeneity of Alport syndrome","volume":"27","author":"Feingold, J.; Bois, E.; Chompret, A.; Broyer, M.; Gubler, M.C.; Grunfeld, J.P.","year":"1985","unstructured":"Feingold J, Bois E, Chompret A, Broyer M, Gubler MC, Grunfeld JP. Genetic heterogeneity of Alport syndrome. Kidney Int 1985;27:672-7.","journal-title":"Kidney Int"},{"key":"ref_5","first-page":"1192","article-title":"X-linked Alport syndrome: an SSCP-based mutation survey over all 51 exons of the COL4A5 gene","volume":"58","author":"Renieri, A.; Bruttini, M.; Galli, L.","year":"1996","unstructured":"Renieri A, Bruttini M, Galli L, et al. X-linked Alport syndrome: an SSCP-based mutation survey over all 51 exons of the COL4A5 gene. 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