Clinical and Experimental Pediatrics

대한소아청소년과학회 (The Korean Pediatric Society)
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A nonsense PAX6 mutation in a family with congenital aniridia

  • Han, Kyoung Hee (Department of Pediatrics, Jeju National University School of Medicine) ;
  • Lee, Hye Jin (Department of Ophthalmology, Jeju National University School of Medicine) ;
  • Ha, Il-Soo (Department of Pediatrics, Seoul National University Children's Hospital) ;
  • Kang, Hee Gyung (Department of Pediatrics, Seoul National University Children's Hospital) ;
  • Cheong, Hae Il (Department of Pediatrics, Seoul National University Children's Hospital)
  • 투고 : 2015.12.22
  • 심사 : 2016.04.18
  • 발행 : 2016.11.15
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초록

Congenital aniridia is a rare ocular malformation that presents with severe hypoplasia of the iris and various ocular manifestations. Most cases of congenital aniridia are known to be related to mutations in the paired box gene-6 (PAX6 ), which is an essential gene in eye development. Herein, we report a familial case of autosomal dominant congenital aniridia with four affected members in 3 consecutive generations and describe the detailed ophthalmologic findings for one of these members. As expected, mutational analysis revealed a nonsense mutation (p.Ser122*) in the PAX6 gene. Thus, our findings reiterate the importance of PAX6 mutations in congenital aniridia.

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참고문헌

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