PT  - JOURNAL ARTICLE
AU  - J J Jonsson
AU  - A Renieri
AU  - P G Gallagher
AU  - C E Kashtan
AU  - E M Cherniske
AU  - M Bruttini
AU  - M Piccini
AU  - F Vitelli
AU  - A Ballabio
AU  - B R Pober
TI  - Alport syndrome, mental retardation, midface hypoplasia, and elliptocytosis: a new X linked contiguous gene deletion syndrome?
AID  - 10.1136/jmg.35.4.273
DP  - 1998 Apr 01
TA  - Journal of Medical Genetics
PG  - 273--278
VI  - 35
IP  - 4
4099  - http://jmg.bmj.com/content/35/4/273.short
4100  - http://jmg.bmj.com/content/35/4/273.full
SO  - J Med Genet1998 Apr 01; 35
AB  - 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.