Intractable Rare Dis Res. 2023;12(3):202-205. (DOI: 10.5582/irdr.2023.01033)

Carbonic anhydrase II deficiency syndrome with amelogenesis imperfecta linked to a homozygous CA2 deletion

Leite LDR, Resende KKM, Rosa LS, Mazzeu JF, Oliveira LC, Scher MCSD, Acevedo AC, Yamaguti PM


We performed a study to present a phenotypic and genotypic characterization of a patient clinically diagnosed with carbonic anhydrase II (CAII) deficiency syndrome. Medical records were reviewed, and oral examination was performed. Sanger sequencing was undertaken for molecular diagnosis. The patient presented with osteopetrosis, renal tubular acidosis, cerebral calcification, blindness, deafness, and development delay. The oral manifestations included anterior open bite, posterior crossbite, tooth eruption impairment, and hypoplastic amelogenesis imperfecta (AI). Molecular analysis revealed a CA2 homozygous deletion (c.753delG, p.Asn252Thrfs*14) and confirmed the clinical diagnosis. This study suggests that AI can be another feature of CAII deficiency syndrome. For the first time, a CA2 disease-causing variant is reported to be associated with syndromic AI.

KEYWORDS: amelogenesis imperfecta, osteopetrosis, renal tubular acidosis, carbonic anhydrase II

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