본문 바로가기
KERD
논문KCI 등재

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

조현경|기창석|기창원|오수영|윤재원
대한진단검사의학회 (Korean Society For Laboratory Medicine)|2013.09|Annals of Laboratory Medicine|제33권 제5호|pp. 360-363

0

조회

0

다운로드

1

인용

0

참고문헌

키워드

Axenfeld-Rieger syndromeHomeobox protein PITX2FOXC1 protein
주제분류병리학

초록

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.

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.

참고문헌 (19)

  1. Fitch N, "The Axenfeld syndrome and the Rieger syndrome", J Med Genet, 15, pp.30~34 (1978)
  2. Chang TC, "Axenfeld-Rieger syndrome: new perspectives", Br J Ophthalmol, 96, pp.318~322 (2012)
  3. Semina EV, "Cloning and characterization of a novel bicoid-related homeobox transcription factor gene, RIEG, involved in Rieger syndrome", Nat Genet, 14, pp.392~399 (1996)
  4. Mirzayans F, "Axenfeld-Rieger syndrome resulting from mutation of the FKHL7 gene on chromosome 6p25", Eur J Hum Genet, 8, pp.71~74 (2000)
  5. Strungaru MH, "Genotype-phenotype correlations in Axenfeld-Rieger malformation and glaucoma patients with FOXC1 and PITX2 mutations", Invest Ophthalmol Vis Sci, 48, pp.228~237 (2007)
  6. Weisschuh N, "Novel mutations of FOXC1 and PITX2 in patients with Axenfeld-Rieger malformations", Invest Ophthalmol Vis Sci, 47, pp.3846~3852 (2006)
  7. Weisschuh N, "Clinical utility gene card for: Axenfeld-Rieger syndrome", Eur J Hum Genet, 19 (2011)
  8. Lines MA, "Characterization and prevalence of PITX2 microdeletions and mutations in Axenfeld-Rieger malformations", Invest Ophthalmol Vis Sci, 45, pp.828~833 (2004)
  9. Phillips JC, "A second locus for Rieger syndrome maps to chromosome 13q14", Am J Hum Genet, 59, pp.613~619 (1996)
  10. Tanwar M, "Axenfeld-Rieger syndrome associated with congenital glaucoma and cytochrome P4501B1 gene mutations", Case Rep Med, 2010, pp.212656~ (2010)[DOI]
  11. Diehl AG, "Extraocular muscle morphogenesis and gene expression are regulated by Pitx2 gene dose", Invest Ophthalmol Vis Sci, 47, pp.1785~1793 (2006)
  12. Tümer Z, "Axenfeld-Rieger syndrome and spectrum of PITX2 and FOXC1 mutations", Eur J Hum Genet, 17, pp.1527~1539 (2009)
  13. Gould DB, "Autosomal dominant Axenfeld-Rieger anomaly maps to 6p25", Am J Hum Genet, 61, pp.765~768 (1997)
  14. Cho HJ, "A case of Axenfeld-Rieger syndrome", J Korean Ophthalmol Soc, 41, pp.258~263 (2000)
  15. Kim GN, "A novel forkhead box C1 gene mutation in a Korean family with Axenfeld-Rieger syndrome", MOLECULAR VISION, 19, pp.935~943 (2013), MOLECULAR VISION
  16. Lee JH, "A case of Axenfeld-Rieger syndrome with severe mitral regurgitation", J Korean Pediatr Cardiol Soc, 10, pp.216~219 (2006)
  17. 박상우, "Anomalous Scleral Insertion of Superior Oblique in Axenfeld-Rieger Syndrome", Korean Journal of Ophthalmology, 23(1), pp.62~64 (2009), 대한안과학회
  18. Borges AS, "Genetic analysis of PITX2 and FOXC1 in Rieger Syndrome patients from Brazil", J Glaucoma, 11, pp.51~56 (2002)
  19. Berry FB, "Functional interactions between FOXC1 and PITX2 underlie the sensitivity to FOXC1 gene dose in Axenfeld-Rieger syndrome and anterior segment dysgenesis", Hum Mol Genet, 15, pp.905~919 (2006)

관련 논문AI추천

A Family with Axenfeld-Rieger Syndrome: Report of the Clinical and Genetic Findings목지원, 문정일, 박명희, 양희정, 이유경, 주천기대한안과학회 · Korean Journal of Ophthalmology2015 · 제29권 제4호PITX2-related Axenfeld-Rieger Syndrome with a Novel Pathogenic Variant (c.475_476delCT)기창석, 기창원, 박종은, 이은정대한진단검사의학회 · Annals of Laboratory Medicine2018 · 제38권 제3호Anomalous Scleral Insertion of Superior Oblique in Axenfeld-Rieger Syndrome허환, 김황균, 박상우, 박영걸대한안과학회 · Korean Journal of Ophthalmology2009 · 제23권 제1호한국인 선천성 무홍채증의 임상양상과 분자유전학적 특성김대희, 임현택, 한인균대한안과학회 · 대한안과학회지2016 · 제57권 제9호Identification of a Novel De Novo Variant in the PAX3 Gene in Waardenburg Syndrome by Diagnostic Exome Sequencing: The First Molecular Diagnosis in Korea기창석, 이준남, 이태현, 장미애, 조은해대한진단검사의학회 · Annals of Laboratory Medicine2015 · 제35권 제3호Axenfeld-Rieger 증후군의 치과적 소견강태성, 김성오, 이제호, 최병재대한소아치과학회 · 대한소아치과학회지2003 · 제30권 제3호

이 간행물의 다른 논문 (16건)

The Role of Cardiac Biomarkers in the Diagnosis and Management of Patients Presenting with Suspected Acute Coronary SyndromeEric Christenson, Robert H. Christensonpp. 309-318Evaluation of the Performance of a Micromethod for Measuring Urinary Iodine by Using Six Sigma Quality MetricsRusidah Selamat, Wan Mohamud Wan Nazaimoon, Norhayati Mustafa Khalid, Husniza Hussainpp. 319-325Evaluation of Vancomycin Resistance 3 Multiplexed PCR Assay for Detection of Vancomycin-Resistant Enterococci from Rectal SwabsAylin Erman Daloğlu, Yesim Cekin, Duygu Dağlar, Betil Özhak Baysan, Dilara İnan, Derya Mutlu, Gözde Öngüt, Dilek Çolak, Dilara Öğünçpp. 326-330Variation in the Numbers of Red Blood Cell Units Transfused at Different Medical Institution Types from 2006 to 2010 in Korea김빛나, 이상원, 김신영, 김영은, 김형수, 이건세, 강종원, 장성훈, 허미나pp. 331-342Autoantibodies with Mimicking Specificity Detected by the Dilution Technique in Patients with Warm AutoantibodiesMark Harris Yazer, 장민중, 조덕, 서순팔, 신종희, 박경운, 양동욱, 신명근pp. 343-348
원문 보기