title: PAX6 gene mutations and genotype-phenotype correlations in sporadic cases of aniridia from India.
abstract: In order to understand the underlying molecular genetic defect causing aniridia in India, eight probands from sporadic cases were screened for all 14 exons of the PAX6 gene using polymerase chain reaction-single strand conformation polymorphism (PCR-SSCP). Direct sequencing of the SSCP variants revealed a nonsense mutation (R317X) in the eleventh exon leading to a premature termination of the PAX6 protein in the proline-serine-threonine (PST)-rich domain in two probands. Another proband exhibited an intronic polymorphism (IVS 9-12 C-T). The mutation resulted in loss of function of the PAX6 protein along with variable phenotypic manifestations in the probands. This is the first report describing a PAX6 gene mutation in aniridia cases from India and highlights the variable expressivity in phenotypes due to haploinsufficiency.
authors.affiliation: Brien Holden Eye Research Centre, Hyderabad Eye Research Foundation, Hyderabad, India.
authors.forename: Neeraja
authors.initials: N
authors.lastname: Dharmaraj
authors.forename: Aramati
authors.initials: A
authors.lastname: Reddy
authors.forename: Velamakanni
authors.initials: V
authors.lastname: Kiran
authors.forename: Anil
authors.initials: A
authors.lastname: Mandal
authors.forename: Shirly
authors.initials: S
authors.lastname: Panicker
authors.forename: Subhabrata
authors.initials: S
authors.lastname: Chakrabarti
mesh_terms: D015783:Aniridia / Q000235:genetics*; D002648:Child; D004252:DNA Mutational Analysis; D005091:Exons / Q000235:genetics*; D005136:Eye Proteins; D005838:Genotype; D018398:Homeodomain Proteins / Q000235:genetics*; D006801:Humans; D007194:India; D007429:Intraocular Pressure; D009154:Mutation; D000071841:PAX6 Transcription Factor; D051761:Paired Box Transcription Factors; D010641:Phenotype; D016133:Polymerase Chain Reaction; 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