Alport syndrome, mental retardation, midface hypoplasia, and elliptocytosis: A new X linked contiguous gene deletion syndrome?

Jon J. Jonsson, Alessandra Renieri, Patrick G. Gallagher, Clifford E. Kashtan, Elizabeth M. Cherniske, Mirella Bruttini, Monica Piccini, Francesca Vitelli, Andrea Ballabio, Barbara R. Pober

Research output: Contribution to journalArticlepeer-review

44 Scopus citations

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.

Original languageEnglish (US)
Pages (from-to)273-278
Number of pages6
JournalJournal of medical genetics
Volume35
Issue number4
DOIs
StatePublished - 1998

Keywords

  • Alport syndrome
  • Elliptocytosis
  • Mental retardation
  • Midface hypoplasia

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