Oral manifestation in a pediatric patient with pentasomy x. A case report.

Aim: To describe the oral finding, physical features and medical features with the genetic diagnosis of a Pentasomy X.

Case Report: A 6-year-old female patient was referred for oral evaluation presenting acute pain related to ulcers in the attached gingival and dorsum of tongue mucosa. Medical history revealed Pentasomy X associated with interatrial communication, convergent strabismus, recurrent seizures, dysautonomia, episodes of thrombosis and cognitive delay with limited oral communication skills.

Heterozygous variants are a frequent cause of amelogenesis imperfecta.

Background: Collagen XVII is most typically associated with human disease when biallelic variants (>230) cause junctional epidermolysis bullosa (JEB), a rare, genetically heterogeneous, mucocutaneous blistering disease with amelogenesis imperfecta (AI), a developmental enamel defect. Despite recognition that heterozygous carriers in JEB families can have AI, and that heterozygous variants also cause dominant corneal epithelial recurrent erosion dystrophy (ERED), the importance of heterozygous variants causing dominant non-syndromic AI is not widely recognised.

Methods: Probands from an AI cohort were screened by single molecule molecular inversion probes or targeted hybridisation capture (both a custom panel and whole exome sequencing) for variants.