Early Clinical Diagnosis of PC1/3 Deficiency in a Patient With a Novel Homozygous PCSK1 Splice-Site Mutation


HAERTER B., FUCHS I., MUELLER T., Akbulut U. E. , ÇAKIR M. , JANECKE A. R.

JOURNAL OF PEDIATRIC GASTROENTEROLOGY AND NUTRITION, vol.62, no.4, pp.577-580, 2016 (Journal Indexed in SCI) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 62 Issue: 4
  • Publication Date: 2016
  • Doi Number: 10.1097/mpg.0000000000001018
  • Title of Journal : JOURNAL OF PEDIATRIC GASTROENTEROLOGY AND NUTRITION
  • Page Numbers: pp.577-580

Abstract

Autosomal recessive proprotein convertase 1/3 (PC1/3) deficiency, caused by mutations in the PCSK1 gene, is characterized by severe congenital malabsorptive diarrhea, early-onset obesity, and certain endocrine abnormalities. We suspected PC1/3 deficiency in a 4-month-old girl based on the presence of congenital diarrhea and polyuria. Sequencing the whole coding region and splice sites detected a novel homozygous PCSK1 splice-site mutation, c.544-2A>G, in the patient. The mutation resulted in the skipping of exon 5, the generation of a premature termination codon, and nonsense-mediated PCSK1 messenger ribonucleic acid decay, which was demonstrated in complementary DNA derived from fibroblasts.