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The PRSS1 c.623G>C (p.G208A) mutation is the most common PRSS1 mutation in Korean children with hereditary pancreatitis
  1. Yeoun Joo Lee1,
  2. Chong Kun Cheon1,
  3. KyungMo Kim2,
  4. Seoak Hee Oh2,
  5. Jae Hong Park1,
  6. Han Wook Yoo2
  1. 1 Department of Pediatrics, Pusan National University Children's Hospital, Yangsan, Gyungnam, Korea
  2. 2 Department of Pediatrics, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine, Seoul, Korea
  1. Correspondence to Dr Kyung Mo Kim, Department of Pediatrics, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine, 388-1 Pungnap-Dong, Songpa-Gu, Seoul 138-736, Korea; kmkim{at}amc.seoul.kr

https://doi.org/10.1136/gutjnl-2014-307256

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    We read the article by Schnúr et al 1 and the letter by Atsushi et al 2 reporting the functional aspects and Asian predominance of the p.G208A variant of the serine protease 1 gene (PRSS1) with great interest. Schnúr et al found that p.G208A is a rare variant of PRSS1 and suggested that, together with four other PRSS1 mutants, it is a mild pathogenic variant causing a moderate secretion defect and hereditary pancreatitis. Atsushi et al reported a relatively high prevalence of p.G208A variants in alcoholic and idiopathic Japanese patients with chronic pancreatitis (CP). We previously described two Korean children with the p.G208A variant of PRSS1 who presented with CP and necrotising acute …

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    Footnotes

    • Contributors YJL and KMK designed this study. YJL, SHO and CKC analysed the data. YJL wrote the manuscript. KMK, JHP and HWY revised the manuscript critically for important intellectual content.

    • Competing interests None.

    • Patient consent Obtained.

    • Ethics approval The Ethics Committee of Pusan National University Yangsan Hospital.

    • Provenance and peer review Not commissioned; internally peer reviewed.