TY - JOUR
T1 - Alport syndrome, mental retardation, midface hypoplasia, and elliptocytosis
T2 - A new X linked contiguous gene deletion syndrome?
AU - Jonsson, Jon J.
AU - Renieri, Alessandra
AU - Gallagher, Patrick G.
AU - Kashtan, Clifford E.
AU - Cherniske, Elizabeth M.
AU - Bruttini, Mirella
AU - Piccini, Monica
AU - Vitelli, Francesca
AU - Ballabio, Andrea
AU - Pober, Barbara R.
PY - 1998
Y1 - 1998
N2 - 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.
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.
KW - Alport syndrome
KW - Elliptocytosis
KW - Mental retardation
KW - Midface hypoplasia
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U2 - 10.1136/jmg.35.4.273
DO - 10.1136/jmg.35.4.273
M3 - Article
C2 - 9598718
AN - SCOPUS:17344373749
SN - 0022-2593
VL - 35
SP - 273
EP - 278
JO - Journal of medical genetics
JF - Journal of medical genetics
IS - 4
ER -