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A novel p.Ser282Pro CPA1 variant is associated with autosomal dominant hereditary pancreatitis
  1. Aleksandra A Kujko1,
  2. Dorottya M. Berki2,
  3. Grzegorz Oracz3,
  4. Karolina Wejnarska3,
  5. Justyna Antoniuk1,
  6. Katarzyna Wertheim-Tysarowska1,
  7. Elwira Kołodziejczyk3,
  8. Jerzy Bal1,
  9. Miklós Sahin-Tóth2,
  10. Agnieszka M Rygiel1
  1. 1Department of Medical Genetics, Institute of Mother and Child, Warsaw, Poland
  2. 2Department of Molecular and Cell Biology, Center for Exocrine Disorders, Boston University Henry M. Goldman School of Dental Medicine, Boston, Massachusetts, USA
  3. 3Department of Gastroenterology, Hepatology and Feeding Disorders and Pediatrics, The Children's Memorial Health Institute, Warsaw, Poland
  1. Correspondence to Dr Agnieszka M Rygiel, Institute of Mother and Child, Kasprzaka 17a, Warsaw 01-211, Poland; agnieszka.rygiel{at}imid.med.pl

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We read with great interest the recent publication by Németh et al.1 in which the authors demonstrate that a misfolding human cationic trypsinogen (serine protease 1, PRSS1) variant causes autosomal dominant hereditary chronic pancreatitis (CP) by inducing endoplasmic reticulum (ER) stress. Previously, the same mechanism was proposed for carboxypeptidase A1 (CPA1) gene variants strongly associated with early onset sporadic CP;2 however, the association of misfolding CPA1 variants with familial or hereditary CP has not been demonstrated so far.

Here, we report two Polish families with hereditary CP carrying a novel heterozygous c.844T>C (p.Ser282Pro) CPA1 variant. In Family 1, the index patient, her mother and uncle (half-brother of the mother) developed CP (figure 1). The age of diagnosis was 17 years for the index patient and 51 and 31 years (with earlier abdominal pain) for the mother and the uncle, respectively. In Family 2, three members were affected by CP (figure 1): the index patient, her mother and her father with ages of onset of 12, 32 and 34 years, respectively. In both families, the diagnosis of CP was confirmed by …

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