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Abstract #18540 Published in IGR 3-3
PAX6 mutation in a family with aniridia, congenital ptosis, and mental retardation
Malandrini A; Mari F; Palmeri S; Gambelli S; Berti G; Bruttini M; Bardelli AM; Williamson K; van Heyningen V; Renieri AClinical Genetics 2001; 60: 151-154
Congenital aniridia is due to deletions and point mutations in the PAX6 gene. The authors describe a case of a mother and her two sons with a syndrome comprising congenital aniridia, ptosis, and slight mental retardation. The sons also show behavioral changes. The possibility of deletion around the PAX6 locus was excluded by polymorphism studies and fluorescence in situ hybridization analysis. Mutation screening of the PAX6 gene revealed the presence of a transversion C719A, resulting in the substitution of arginine for serine at residue 119. The authors suggest that this missense mutation is responsible both for aniridia and ptosis, and possibly also for the observed cognitive dysfunction in this family.
Dr A. Malandrini, Institute of Neurological Sciences, Medical Research Council, Western General Hospital, Edinburgh, UK
Classification:
1.2 Population genetics (Part of: 1 General aspects)
