A 37-kb Deletion in Region 16p13.3 in an Infant with Osteopetrosis and Congenital Diarrhea Including the CLCN7 and PERCC1 Genes

Abstract

Introduction: Congenital diarrhea presents a diagnostic challenge in cases where standard assessments are inconclusive. Case Presentation: We report a female infant with thrombocytopenia, increased bone density, and pale optic disc symptoms, suggestive of osteopetrosis. However, she also exhibited noninfectious, blood- and mucus-free diarrhea, not accounted for by osteopetrosis. Genetic testing, including clinical exome sequencing and chromosomal microarray analysis, revealed a homozygous 39-kb deletion on chromosome 16p13.3. This deletion spanned the CLCN7 gene associated with osteopetrosis and the PERCC1 gene implicated in congenital diarrhea. Conclusion: This case illustrates the importance of considering 16p13.3 deletions when confronted with the dual presentation of congenital diarrhea and osteopetrosis, expanding the diagnostic considerations for similar clinical presentations.