Ann Lab Med.  2013 Sep;33(5):360-363. 10.3343/alm.2013.33.5.360.

Novel c.300_301delinsT Mutation in PITX2 in a Korean Family with Axenfeld-Rieger Syndrome

• Yun JW
• Cho HK
• Oh SY
• Ki CS
• Kee C

• KMID: 1781343
• DOI: http://doi.org/10.3343/alm.2013.33.5.360

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.

Keyword

Axenfeld-Rieger syndrome; Homeobox protein PITX2; FOXC1 protein

MeSH Terms

Adult
Anterior Eye Segment/*abnormalities/pathology
Base Sequence
Child, Preschool
Eye Abnormalities/*genetics/pathology
Female
Heterozygote
Homeodomain Proteins/chemistry/*genetics
Humans
Mutation
Pedigree
Republic of Korea
Transcription Factors/chemistry/*genetics
Homeodomain Proteins
Transcription Factors

Figure

• 

  Fig. 1 Pedigree of the patient based on the clinical features (A). Direct sequencing results of the PITX2 gene. III:5 is the father of the patient, III:6 is the mother, and V:8 is the patient (B).

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