Alport syndrome, mental retardation, midface hypoplasia, and elliptocytosis: a new X linked contiguous gene deletion syndrome?. Issue 4 (April 1998)

• Record Type: Journal Article
• Authors: Jonsson, J J; Renieri, A; Gallagher, P G; Kashtan, C E; Cherniske, E M; Bruttini, M; Piccini, M; Vitelli, F; Ballabio, A; Pober, B R
• Is Part Of: Journal of medical genetics. Volume 35:Issue 4(1998)
• Page Start: 273
• Page End: 278
• Publication Date: 1998-04
• Subjects: Medical genetics -- Periodicals; 616.042
• DOI: 10.1136/jmg.35.4.273
• Languages: English
• ISSNs: 1468-6244

Abstract

Abstract : 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.