title: Novel c.300_301delinsT mutation in PITX2 in a Korean family with Axenfeld-Rieger syndrome.
abstract: Axenfeld-Rieger syndrome (ARS) is characterized by anomalies of the anterior segment of the eye and systemic abnormalities. Mutations in the FOXC1 and PITX2 genes are underlying causes of ARS, but there has been few reports on genetically confirmed ARS in Korea. We identified a novel PITX2 mutation (c.300_301delinsT) in 2 Korean patients from a family with ARS. We expand the spectrum of PITX2 mutations and, to the best of our knowledge, this is the first confirmed family of PITX2-related ARS in Korea.
authors.affiliation: Department of Laboratory Medicine and Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.
authors.forename: Jae Won
authors.initials: JW
authors.lastname: Yun
authors.forename: Hyun-Kyung
authors.initials: HK
authors.lastname: Cho
authors.forename: Soo-Young
authors.initials: SY
authors.lastname: Oh
authors.forename: Chang-Seok
authors.initials: CS
authors.lastname: Ki
authors.forename: Changwon
authors.initials: C
authors.lastname: Kee
mesh_terms: D000328:Adult; D000869:Anterior Eye Segment / Q000002:abnormalities* / Q000473:pathology; D001483:Base Sequence; D002675:Child, Preschool; D005124:Eye Abnormalities / Q000235:genetics* / Q000473:pathology; D015785:Eye Diseases, Hereditary; D005260:Female; D006579:Heterozygote; D018398:Homeodomain Proteins / Q000737:chemistry / Q000235:genetics*; D006801:Humans; D009154:Mutation; D010375:Pedigree; D056910:Republic of Korea; D014157:Transcription Factors / Q000737:chemistry / Q000235:genetics*; D000097577:Homeobox Protein PITX2
chemical_list: D018398:Homeodomain Proteins; D014157:Transcription Factors; D000097577:Homeobox Protein PITX2
keywords: Axenfeld-Rieger syndrome; FOXC1 protein; Homeobox protein PITX2