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KMID : 1100720130330050360
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Annals of Laboratory Medicine
2013 Volume.33 No. 5 p.360 ~ p.363
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Novel c.300_301delinsT Mutation in PITX2 in a Korean Family with Axenfeld-Rieger Syndrome
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Yun Jae-Won
Cho Hyun-Kyung
Oh Soo-Young
Ki Chang-Seok
Kee Chang-Won
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Abstract
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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.
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KEYWORD
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Axenfeld-Rieger syndrome, Homeobox protein PITX2, FOXC1 protein
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