Novel homozygous mutation of PNLIP gene in congenital pancreatic lipase deficiency: an extended family study.

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 en

SUBMITTER: Kamal NM 

PROVIDER: S-EPMC8905215 | biostudies-literature | 2022

REPOSITORIES: biostudies-literature