Título :	Carbonic anhydrase II deficiency syndrome with amelogenesis imperfecta linked to a homozygous CA2 deletion
Autor :	Leite, Luan Deives Rodrigues Resende, Kêmelly Karolliny Moreira Rosa, Lídia dos Santos Mazzeu, Juliana Forte Oliveira, Livia Claudio de Scher, Maria do Carmo Sorci Dias Acevedo, Ana Carolina Yamaguti, Paulo Marcio
metadata.dc.contributor.affiliation:	University of Brasilia, University Hospital of Brasilia, Unit of Oral Health, Oral Care Center for Inherited Diseases University of Brasilia, University Hospital of Brasilia, Unit of Oral Health, Oral Care Center for Inherited Diseases University of Brasilia, Faculty of Health Sciences, Department of Dentistry, Laboratory of Oral Histopathology University of Brasilia, Faculty of Medicine, Laboratory of Clinical Genetics University of Brasilia, University Hospital of Brasilia, Unit of Pediatric Nephrology University of Brasilia, University Hospital of Brasilia, Unit of Pediatric Nephrology University of Brasilia, Faculty of Health Sciences, Department of Dentistry, Laboratory of Oral Histopathology University of Brasilia, University Hospital of Brasilia, Unit of Oral Health, Oral Care Center for Inherited Diseases
Assunto::	Amelogênese imperfeita Osteopetrose Acidose tubular renal Anidrase carbônica II
Fecha de publicación :	2023
Editorial :	International Advancement Center for Medicine & Health Research Co., Ltd.
Citación :	LEITE, Luan Deives Rodrigues et al. Carbonic anhydrase II deficiency syndrome with amelogenesis imperfecta linked to a homozygous CA2 deletion. Intractable & Rare Diseases Research, [S. l.], v. 12, n. 3, 202-205, 2023. DOI: 10.5582/irdr.2023.01033.
Abstract:	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.
metadata.dc.description.unidade:	Hospital Universitário de Brasília (HUB) Faculdade de Ciências da Saúde (FS) Departamento de Odontologia (FS ODT) Faculdade de Medicina (FM)
DOI:	10.5582/irdr.2023.01033
metadata.dc.relation.publisherversion:	https://www.irdrjournal.com/article/2445
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