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. 2024 Oct;15(5):427-431.
doi: 10.1159/000538395. Epub 2024 Apr 12.

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

Semih Sandal  1 , Gulsum Kayhan  2 , Dilek Kahvecioglu  3 , Emine Vezir  4 , Ayse Kilic  5 , Aslihan Köse  3 , Melda Tas Ersun  3 , Turan Derme  3 , Yusuf Bahap  2 , Selim Dereci  6 , Samil Hizli  7
Affiliations

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

Semih Sandal et al. Mol Syndromol. 2024 Oct.

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.

Keywords: 16p13.3 deletion; CLCN7; Congenital diarrhea; Osteopetrosis; PERCC1.

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Conflict of interest statement

The authors have no conflicts of interest to declare.

Figures

Fig. 1.
Fig. 1.
Increased bone density on X-ray.
Fig. 2.
Fig. 2.
The 39-kb deletion on chromosome 16p13.3 including the C16orf91, CCDC154, and the exon 2–25 of the CLCN7 gene. The PERCC1 gene, which was recently annotated to the region between the C16orf91 and CCDC154 genes, was not included in the original image.
See this image and copyright information in PMC

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