Akademik Veri Yönetim Sistemi
Eurodysmorpho 2024, Ljubljana, Slovenya, 18 - 21 Eylül 2024, (Özet Bildiri)
In this report we present a female infant displaying thrombocytopenia, increased bone density, and the observation of pale optic disc symptoms consistent with the diagnosis of osteopetrosis. However, the patient had non-infectious, blood- and mucus-free diarrhea, which osteopetrosis could not explain. Clinical exome sequencing and chromosomal microarray analysis identified a a rare 39 kb homozygous deletion (Fig. 1) on chromosome 16p13.3 encompassing the osteopetrosis-related CLCN7 gene and the recently annotated PERCC1 gene related to congenital diarrhea following the discovery by Oz-Levi et al. (2019) that non-coding regions can control the gastrointestinal expression of PERCC1. Pangrazio et al. reported similar deletion was observed, though it was associated with pseudomembranous colitis-related diarrhea,. Our case extends the phenotype associated with 16p13.3 deletions, as truncating variants in CLCN7 alone have not been known to present with diarrhea. The case confirms the critical region on chromosome 16 identified by Oz-Levi et al. as integral to congenital diarrhea. The finding advocates for the inclusion of 16p13.3 deletions in the differential diagnosis for patients with osteopetrosis and congenital diarrhea, reinforcing the significance of a genomic approach in atypical presentations and highlighting the potential for broader genetic implications in cases with congenital diarrhea. Key words: Congenital diarrhea, Osteopetrosis, CLCN7, PERCC1, 16p13.3 deletion