title: Microphthalmia, late onset keratitis, and iris coloboma/aniridia in a family with a novel PAX6 mutation.
abstract: Autosomal dominant microphthalmia with late-onset keratitis and iris coloboma/aniridia has not been reported before. Here we report a Chinese family with these phenotypes and a novel PAX6 mutation. Microphthalmia, late-onset keratitis, iris coloboma, and nystagmus were present in the proband. His son had microphthalmia, aniridia, foveal hypoplasia, and nystagmus. A novel c.649C>T (p.Arg217X) mutation in PAX6 was detected in the proband and his affected son. This study expands the phenotypic spectrum of PAX6 mutation and enriched our knowledge of the genetic cause for microphthalmia and late-onset keratitis.
authors.forename: Xueshan
authors.initials: X
authors.lastname: Xiao
authors.forename: Shiqiang
authors.initials: S
authors.lastname: Li
authors.forename: Qingjiong
authors.initials: Q
authors.lastname: Zhang
mesh_terms: D000015:Abnormalities, Multiple; D000328:Adult; D015783:Aniridia / Q000175:diagnosis / Q000235:genetics*; D002675:Child, Preschool; D018389:Codon, Nonsense; D003103:Coloboma / Q000175:diagnosis / Q000235:genetics*; D003315:Cornea / Q000002:abnormalities; D005091:Exons / Q000235:genetics; D005136:Eye Proteins / Q000235:genetics*; D005799:Genes, Dominant; D018398:Homeodomain Proteins / Q000235:genetics*; D006801:Humans; D007498:Iris / Q000002:abnormalities*; D007634:Keratitis / Q000175:diagnosis / Q000235:genetics*; D008297:Male; D008850:Microphthalmos / Q000175:diagnosis / Q000235:genetics*; D009759:Nystagmus, Pathologic / Q000235:genetics; D000071841:PAX6 Transcription Factor; D051761:Paired Box Transcription Factors / Q000235:genetics*; D010375:Pedigree; D012097:Repressor Proteins / Q000235:genetics*
chemical_list: D018389:Codon, Nonsense; D005136:Eye Proteins; D018398:Homeodomain Proteins; D000071841:PAX6 Transcription Factor; C000605730:PAX6 protein, human; D051761:Paired Box Transcription Factors; D012097:Repressor Proteins