Novel c.300_301delinsT Mutation in PITX2 in a Korean Family with Axenfeld-Rieger Syndrome
Annals of Laboratory Medicine
;
: 360-363, 2013.
Article
in English
| WPRIM
| ID: wpr-178342
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.
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Pedigree
/
Transcription Factors
/
Base Sequence
/
Eye Abnormalities
/
Homeodomain Proteins
/
Republic of Korea
/
Heterozygote
/
Anterior Eye Segment
/
Mutation
Type of study:
Prognostic study
Limits:
Adult
/
Child, preschool
/
Female
/
Humans
Country/Region as subject:
Asia
Language:
English
Journal:
Annals of Laboratory Medicine
Year:
2013
Type:
Article
Similar
MEDLINE
...
LILACS
LIS