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.
journal_name
Clin Genetjournal_title
Clinical geneticsauthors
Malandrini A,Mari F,Palmeri S,Gambelli S,Berti G,Bruttini M,Bardelli AM,Williamson K,van Heyningen V,Renieri Adoi
10.1034/j.1399-0004.2001.600210.xsubject
Has Abstractpub_date
2001-08-01 00:00:00pages
151-4issue
2eissn
0009-9163issn
1399-0004pii
cge600210journal_volume
60pub_type
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