title: A rare PAX6 mutation in a Chinese family with congenital aniridia.
abstract: Aniridia is an autosomal dominant disorder characterized by the complete or partial loss of the iris and is almost associated with mutations in the paired box gene 6 (PAX6). We examined three generations of a Chinese family with congenital aniridia and observed genetic defects. Exons of PAX6 from 12 family members were amplified by polymerase chain reaction, sequenced, and compared with reference sequences in NCBI reference sequence database (http://www.ncbi.nlm.nih.gov/nuccore/NG_008679.1?from=5001&to=38170&report=genbank). A rare mutation c.2T>A (M1K) in exon 4 of PAX6 was identified in all affected family members but not in unaffected family members. Our results suggest that the c.2T>A (M1K) mutation may be responsible for the pathogenesis of congenital aniridia in this family. To our knowledge, this is the first report of the M1K mutation in PAX6 in a Chinese family with this disease and the second report worldwide.
authors.affiliation: State Key Laboratory of Biotherapy, West China Hospital, Sichuan University, Chengdu, Sichuan Province, China.
authors.forename: F
authors.initials: F
authors.lastname: He
authors.affiliation: State Key Laboratory of Biotherapy, West China Hospital, Sichuan University, Chengdu, Sichuan Province, China.
authors.forename: D L
authors.initials: DL
authors.lastname: Liu
authors.affiliation: Department of Ophthalmology, Second People's Hospital of Zhengzhou, Zhengzhou, Henan Province, China.
authors.forename: M P
authors.initials: MP
authors.lastname: Chen
authors.affiliation: Shenzhen Key Laboratory of Ophthalmology, Shenzhen Eye Hospital, Jinan University, Shenzhen, Guangdong Province, China.
authors.forename: L
authors.initials: L
authors.lastname: Liu
authors.affiliation: Shenzhen Key Laboratory of Ophthalmology, Shenzhen Eye Hospital, Jinan University, Shenzhen, Guangdong Province, China.
authors.forename: L
authors.initials: L
authors.lastname: Lu
authors.affiliation: Shenzhen Key Laboratory of Ophthalmology, Shenzhen Eye Hospital, Jinan University, Shenzhen, Guangdong Province, China.
authors.forename: M
authors.initials: M
authors.lastname: Ouyang
authors.affiliation: Shenzhen Key Laboratory of Ophthalmology, Shenzhen Eye Hospital, Jinan University, Shenzhen, Guangdong Province, China.
authors.forename: J
authors.initials: J
authors.lastname: Yang
authors.affiliation: Shenzhen Key Laboratory of Ophthalmology, Shenzhen Eye Hospital, Jinan University, Shenzhen, Guangdong Province, China.
authors.forename: R
authors.initials: R
authors.lastname: Gan
authors.affiliation: Shenzhen Key Laboratory of Ophthalmology, Shenzhen Eye Hospital, Jinan University, Shenzhen, Guangdong Province, China.
authors.forename: X Y
authors.initials: XY
authors.lastname: Liu
mesh_terms: D000293:Adolescent; D000328:Adult; D000595:Amino Acid Sequence; D015783:Aniridia / Q000175:diagnosis* / Q000235:genetics*; D044466:Asian People / Q000235:genetics; D002681:China; D019781:Corneal Topography; D004252:DNA Mutational Analysis; D005091:Exons; D005136:Eye Proteins / Q000737:chemistry / Q000235:genetics*; D005190:Family; D005260:Female; D018398:Homeodomain Proteins / Q000737:chemistry / Q000235:genetics*; D006801:Humans; D008297:Male; D008875:Middle Aged; D008969:Molecular Sequence Data; D009154:Mutation; D000071841:PAX6 Transcription Factor; D051761:Paired Box Transcription Factors / Q000737:chemistry / Q000235:genetics*; D010375:Pedigree; D012097:Repressor Proteins / Q000737:chemistry / Q000235:genetics*; D016415:Sequence Alignment; D055815:Young Adult
chemical_list: D005136:Eye Proteins; D018398:Homeodomain Proteins; D000071841:PAX6 Transcription Factor; C000605730:PAX6 protein, human; D051761:Paired Box Transcription Factors; D012097:Repressor Proteins