De novo deletions in the paired domain of PAX6 in south Indian aniridic patients.
We analyzed the sequence variation in the coding exons of PAX6 in eight unrelated south Indian pedigrees with one aniridic individual in each family. Mutations were detected by PCR, SSCP and allele-specific cloning followed by sequencing. Here we report two de novo deletion mutations, c.537delA (codon 59) and c.728del14 (codon 122), in the paired domain of PAX6. These deletions probably represent null or hypomorphic alleles consistent with PAX6 haploinsufficiency as the underlying genetic factor of aniridia.
Department of Genetics, Aravind Medical Research Foundation, Madurai, 625 020, India.
Guruswamy
G
Neethirajan
School of Medical Sciences, Institute of Medical Sciences, University of Aberdeen, Foresterhill, Aberdeen, AB25 2ZD, UK.
J Martin
JM
Collinson
Department of Glaucoma, Aravind Eye Hospital, Madurai, India.
Subbaiah Ramasamy
SR
Krishnadas
Department of Pediatric Ophthalmology and Strabismus, Aravind Eye Hospital, Madurai, India.
Perumalsamy
P
Vijayalakshmi
Department of Pediatric Ophthalmology and Strabismus, Aravind Eye Hospital, Madurai, India.
Shetty
S
Shashikant
Department of Molecular Biology, Aravind Medical Research Foundation, Madurai, 625 020, India.
Chandrashekhar
C
Reena
Department of Genetics, Aravind Medical Research Foundation, Madurai, 625 020, India. sundar@aravind.org.
Periasamy
P
Sundaresan
D000595:Amino Acid Sequence; D015783:Aniridia / Q000235:genetics*; D001483:Base Sequence; D003001:Cloning, Molecular; D005136:Eye Proteins; D018398:Homeodomain Proteins / Q000235:genetics*; D006801:Humans; D007194:India / Q000208:ethnology; D008969:Molecular Sequence Data; D009154:Mutation / Q000235:genetics*; D000071841:PAX6 Transcription Factor; D051761:Paired Box Transcription Factors; D016133:Polymerase Chain Reaction; D018807:Polymorphism, Single-Stranded Conformational; D012097:Repressor Proteins; D017422:Sequence Analysis, DNA
D005136:Eye Proteins; D018398:Homeodomain Proteins; D000071841:PAX6 Transcription Factor; C000605730:PAX6 protein, human; D051761:Paired Box Transcription Factors; D012097:Repressor Proteins