title: PAX6 mutation in a family with aniridia, congenital ptosis, and mental retardation.
abstract: Congenital aniridia is due to deletions and point mutations in the PAX6 gene. We describe here 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. We suggest that this missense mutation is responsible both for aniridia and ptosis, and possibly also for the observed cognitive dysfunction in this family.
authors.affiliation: Institute of Neurological Sciences, Medical Research Council, Western General Hospital, Edinburgh, UK.
authors.forename: A
authors.initials: A
authors.lastname: Malandrini
authors.forename: F
authors.initials: F
authors.lastname: Mari
authors.forename: S
authors.initials: S
authors.lastname: Palmeri
authors.forename: S
authors.initials: S
authors.lastname: Gambelli
authors.forename: G
authors.initials: G
authors.lastname: Berti
authors.forename: M
authors.initials: M
authors.lastname: Bruttini
authors.forename: A M
authors.initials: AM
authors.lastname: Bardelli
authors.forename: K
authors.initials: K
authors.lastname: Williamson
authors.forename: V
authors.initials: V
authors.lastname: van Heyningen
authors.forename: A
authors.initials: A
authors.lastname: Renieri
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics* / Q000473:pathology; D000293:Adolescent; D000328:Adult; D015783:Aniridia / Q000473:pathology*; D001763:Blepharoptosis / Q000473:pathology*; D004247:DNA / Q000737:chemistry / Q000235:genetics; D004252:DNA Mutational Analysis; D005136:Eye Proteins; D005192:Family Health; D005260:Female; D018398:Homeodomain Proteins / Q000235:genetics*; D006801:Humans; D008607:Intellectual Disability / Q000473:pathology*; D008297:Male; D008875:Middle Aged; D009154:Mutation; D020125:Mutation, Missense; D000071841:PAX6 Transcription Factor; D051761:Paired Box Transcription Factors; D010375:Pedigree; D018807:Polymorphism, Single-Stranded Conformational; D012097:Repressor Proteins
chemical_list: D005136:Eye Proteins; D018398:Homeodomain Proteins; D000071841:PAX6 Transcription Factor; C000605730:PAX6 protein, human; D051761:Paired Box Transcription Factors; D012097:Repressor Proteins; D004247:DNA