Novel homozygous mutation of PNLIP gene in congenital pancreatic lipase deficiency: an extended family study.
- Citation:
- Kamal, N. M., O. I. Saadah, S. S. Alheraiti, R. Attar, A. D. Alsufyani, M. H. F. El-Shabrawi, and L. M. Sherief, "Novel homozygous mutation of PNLIP gene in congenital pancreatic lipase deficiency: an extended family study.", Therapeutic advances in chronic disease, vol. 13, pp. 20406223221078757, 2022.
Abstract:
Introduction: Congenital pancreatic lipase deficiency (MIM 614338) is a rare genetic disorder caused by homozygous mutation in the PNLIP gene. Few cases have been reported worldwide and among them, few cases were genetically confirmed.
Patients and methods: A 3-year-old girl presented with abundant greasy diarrhea started at the age of 2 years. Work up of steatorrhea including molecular testing of PNLIP gene in the patient and her family was done.
Results: A novel homozygous variant c.1257G > A (p. Trp419Ter) of the PNLIP gene was detected in the patient. Her parents and two siblings were carriers for the same mutation. Pancreatic enzyme therapy was introduced, and a multidisciplinary team was involved with the education for the need for the lifelong use of pancreatic enzymes, and genetic counseling was carried out. There was a great improvement of steatorrhea with pancreatic enzymes treatment.
Conclusions: PNLIP deficiency should be suspected in patients with steatorrhea who have low pancreatic lipase and an otherwise normal health and appropriate growth.