A 37-kb Deletion in Region 16p13.3 in an Infant with Osteopetrosis and Congenital Diarrhea Including the CLCN7 and

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Semih Sandal1, Gulsum Kayhan2, Dilek Kahvecioglu3

  • 1Pediatric Gastroenterology, Ankara Research and Education Hospital, Ankara, Turkey.

Molecular Syndromology
|October 3, 2024
PubMed

Insights

A rare genetic deletion on chromosome 16p13.3 caused both osteopetrosis and congenital diarrhea in an infant. This finding highlights the importance of genetic testing for complex pediatric cases.

Area of Science:

  • Genetics
  • Pediatrics
  • Molecular Biology

Background:

  • Congenital diarrhea poses diagnostic challenges, especially when symptoms are atypical.
  • Osteopetrosis is a rare genetic disorder characterized by increased bone density.

Purpose of the Study:

  • To investigate the genetic basis of a rare condition presenting with both congenital diarrhea and osteopetrosis.
  • To highlight the diagnostic significance of chromosomal abnormalities in complex pediatric cases.

Main Methods:

  • Clinical exome sequencing was performed.
  • Chromosomal microarray analysis was utilized.
  • Genetic testing identified a homozygous deletion on chromosome 16p13.3.

Main Results:

  • The patient presented with thrombocytopenia, increased bone density, and pale optic discs, indicative of osteopetrosis.
  • The infant also exhibited noninfectious, blood- and mucus-free diarrhea.
  • A 39-kb deletion on chromosome 16p13.3 was identified, encompassing the CLCN7 and PERCC1 genes.

Conclusions:

  • 16p13.3 deletions should be considered in infants with combined symptoms of congenital diarrhea and osteopetrosis.
  • This case expands the known genetic causes of congenital diarrhea.
  • Comprehensive genetic analysis is crucial for diagnosing rare pediatric disorders.
Abstract

Keywords:
16p13.3 deletionCLCN7Congenital diarrheaOsteopetrosisPERCC1

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