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A case of hereditary pancreatitis with a N29I mutation in the cationic trypsinogen gene

Korean Journal of Pediatrics 2006;49(10):1111-1115.
Published online October 15, 2006.
A case of hereditary pancreatitis with a N29I mutation in the cationic trypsinogen gene
Jee Youn Shin, Dae Sung Oh, Jeong Min Rheu, Jeong Ok Shim, Ji Sook Park, Jae Sung Ko, Jeong Kee Seo
Department of Pediatrics, College of Medicine, Seoul National University, Seoul, Korea
A case of hereditary pancreatitis with a N29I mutation in the cationic trypsinogen gene
신지연, 오대성, 류정민, 심정옥, 박지숙, 고재성, 서정기
서울대학교 의과대학 소아과학교실
Correspondence: 
Jeong Kee Seo, Email: jkseo@snu.ac.kr
Abstract
Hereditary pancreatitis is an autosomal dominant disease characterized by recurrent episodes of pancreatitis, often beginning in childhood, with a positive family history involving at least two other affected family members with no known other precipitating factors. Most forms of hereditary pancreatitis are caused by one of two common mutations, i.e., R122H in exon 3 and N29I in exon 2 of the cationic trypsinogen (CT) (PRSS1) gene, located on chromosome 7. The authors describe the case of a 15-year-old boy who had suffered from recurrent attacks of pancreatitis since age three. His mother and grandmother had chronic pancreatitis and diabetes mellitus. Mutation analysis was performed on the family due to the suspicion of hereditary pancreatitis. The CT gene was analyzed in DNA samples extracted from the peripheral blood of three family members, the mother, the proband, and the proband's sister. Two members of the family, the mother and the proband, were found to have a N29I mutation in the CT gene. The authors document the first family with hereditary pancreatitis associated with the N29I mutation in Korea.
Key Words: Hereditary pancreatitis , Cationic trypsinogen , Korean


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