De novo PRSS1 p.Asn29Ile Mutation Causing Hereditary Pancreatitis in an Indian Child
- 1Department of Paediatrics, Dr. D. Y. Patil Medical College, Hospital and Research Centre, Pune, Maharashtra, India
Abstract
Hereditary pancreatitis is a rare genetic disorder, usually associated with gain-of-function mutations in the PRSS1 gene. While in the Indian pediatric population, the SPINK1 mutations are more frequently reported, making PRSS1 mutations, particularly the de novo variants, rare. An 11-year-old school-going Indian girl presented with recurrent acute pancreatitis beginning at the age of 5 years. This progressed to chronic pancreatitis by the age of 10 years. Metabolic, autoimmune, structural, and infectious causes were excluded. The genetic test done revealed a heterozygous pathogenic PRSS1 c.86A>T (p.Asn29Ile) variant. In the absence of family history, this was consistent with a likely de novo mutation. No pathogenic variants were detected in SPINK1, CFTR, CTRC, or CPA1. Pancreatic enzyme replacement therapy and dietary modification reduced the frequency of attacks and preserved her growth. This case highlights the importance of genetic evaluation in children who present with unexplained recurrent pancreatitis, even when there is no positive family history. Early identification of PRSS1 mutation allows for appropriate counseling, long-term surveillance, and complication prevention.
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BibTeX
@article{pande2026novo,
title = {{De novo PRSS1 p.Asn29Ile Mutation Causing Hereditary Pancreatitis in an Indian Child}},
author = {Vineeta Pande and Nidhi N. Upadhyaya and Bharath Sinha Reddy and Amrita Nepram},
journal = {Annals of African Medicine},
year = {2026},
month = sep,
doi = {10.4103/aam.aam_191_26},
url = {https://doi.org/10.4103/aam.aam_191_26},
note = {CC BY-NC-SA 4.0},
}
RIS
TY - JOUR
TI - De novo PRSS1 p.Asn29Ile Mutation Causing Hereditary Pancreatitis in an Indian Child
AU - Vineeta Pande
AU - Nidhi N. Upadhyaya
AU - Bharath Sinha Reddy
AU - Amrita Nepram
PY - 2026
DA - 2026/09/15
JO - Annals of African Medicine
DO - 10.4103/aam.aam_191_26
UR - https://doi.org/10.4103/aam.aam_191_26
AB - Hereditary pancreatitis is a rare genetic disorder, usually associated with gain-of-function mutations in the PRSS1 gene. While in the Indian pediatric population, the SPINK1 mutations are more frequently reported, making PRSS1 mutations, particularly the de novo variants, rare. An 11-year-old school-going Indian girl presented with recurrent acute pancreatitis beginning at the age of 5 years. This progressed to chronic pancreatitis by the age of 10 years. Metabolic, autoimmune, structural, and infectious causes were excluded. The genetic test done revealed a heterozygous pathogenic PRSS1 c.86A>T (p.Asn29Ile) variant. In the absence of family history, this was consistent with a likely de novo mutation. No pathogenic variants were detected in SPINK1, CFTR, CTRC, or CPA1. Pancreatic enzyme replacement therapy and dietary modification reduced the frequency of attacks and preserved her growth. This case highlights the importance of genetic evaluation in children who present with unexplained recurrent pancreatitis, even when there is no positive family history. Early identification of PRSS1 mutation allows for appropriate counseling, long-term surveillance, and complication prevention.
SN - 1596-3519
SN - 0975-5764
ER -