Novel c.300_301delinsT mutation in PITX2 in a Korean family with Axenfeld-Rieger syndrome

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...

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Bibliographic Details
Published in:Annals of laboratory medicine 2013, 33(5), , pp.360-363
Main Authors: Yun, Jae Won, Cho, Hyun-Kyung, Oh, Soo-Young, Ki, Chang-Seok, Kee, Changwon
Format: Article
Language:English
Subjects:
Adult
Anterior Eye Segment - abnormalities
Anterior Eye Segment - pathology
Base Sequence
Case Report
Child, Preschool
Eye Abnormalities - genetics
Eye Abnormalities - pathology
Eye Diseases, Hereditary
Female
Heterozygote
Homeobox Protein PITX2
Homeodomain Proteins - chemistry
Homeodomain Proteins - genetics
Humans
Mutation
Pedigree
Republic of Korea
Transcription Factors - chemistry
Transcription Factors - genetics
병리학
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Summary: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.
ISSN:2234-3806
2234-3814
DOI:10.3343/alm.2013.33.5.360