title: Alport syndrome, mental retardation, midface hypoplasia, and elliptocytosis: a new X linked contiguous gene deletion syndrome?
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.
authors.affiliation: Department of Genetics, Yale University School of Medicine, New Haven, Connecticut 06520-8005, USA.
authors.forename: J J
authors.initials: JJ
authors.lastname: Jonsson
authors.forename: A
authors.initials: A
authors.lastname: Renieri
authors.forename: P G
authors.initials: PG
authors.lastname: Gallagher
authors.forename: C E
authors.initials: CE
authors.lastname: Kashtan
authors.forename: E M
authors.initials: EM
authors.lastname: Cherniske
authors.forename: M
authors.initials: M
authors.lastname: Bruttini
authors.forename: M
authors.initials: M
authors.lastname: Piccini
authors.forename: F
authors.initials: F
authors.lastname: Vitelli
authors.forename: A
authors.initials: A
authors.lastname: Ballabio
authors.forename: B R
authors.initials: BR
authors.lastname: Pober
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D000328:Adult; D002648:Child; D002675:Child, Preschool; D002869:Chromosome Aberrations; D002872:Chromosome Deletion; D025063:Chromosome Disorders; D004612:Elliptocytosis, Hereditary / Q000235:genetics*; D005260:Female; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D008297:Male; D009394:Nephritis, Hereditary / Q000235:genetics*; D010375:Pedigree; D013577:Syndrome; D014960:X Chromosome