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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 - Ann Lab Med (2013)

Bottom Line: Axenfeld-Rieger syndrome (ARS) is characterized by anomalies of the anterior segment of the eye and systemic abnormalities.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.

View Article: PubMed Central - PubMed

Affiliation: Department of Laboratory Medicine and Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.

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.

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Related in: MedlinePlus

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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Figure 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).

Mentions: The patient was found to be heterozygous for a 2-bp deletion and an insertion of T in the PITX2 gene (c.300_301delinsT), a frameshift mutation predicted to result in premature termination at the 54th amino acid of the PITX2 protein (p.Gln101Serfs*54). Analysis of the parents revealed that this variant was inherited from the mother: the father had a wild-type sequence, while the mother had the same variant as her daughter (Fig. 1). When we tested 104 unaffected ethnically matched controls, none had the mutation. In addition, no other mutations were found in the PITX2 gene of the patient or her parents. Neither mutation nor unknown variation was found in the FOXC1 analysis.


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 - Ann Lab Med (2013)

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).
© Copyright Policy - open-access
Related In: Results  -  Collection

License
Show All Figures
getmorefigures.php?uid=PMC3756242&req=5

Figure 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).
Mentions: The patient was found to be heterozygous for a 2-bp deletion and an insertion of T in the PITX2 gene (c.300_301delinsT), a frameshift mutation predicted to result in premature termination at the 54th amino acid of the PITX2 protein (p.Gln101Serfs*54). Analysis of the parents revealed that this variant was inherited from the mother: the father had a wild-type sequence, while the mother had the same variant as her daughter (Fig. 1). When we tested 104 unaffected ethnically matched controls, none had the mutation. In addition, no other mutations were found in the PITX2 gene of the patient or her parents. Neither mutation nor unknown variation was found in the FOXC1 analysis.

Bottom Line: Axenfeld-Rieger syndrome (ARS) is characterized by anomalies of the anterior segment of the eye and systemic abnormalities.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.

View Article: PubMed Central - PubMed

Affiliation: Department of Laboratory Medicine and Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.

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.

Show MeSH
Related in: MedlinePlus