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

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Autor(es): dc.contributorUniversity of Brasilia, University Hospital of Brasilia, Unit of Oral Health, Oral Care Center for Inherited Diseases-
Autor(es): dc.contributorUniversity of Brasilia, University Hospital of Brasilia, Unit of Oral Health, Oral Care Center for Inherited Diseases-
Autor(es): dc.contributorUniversity of Brasilia, Faculty of Health Sciences, Department of Dentistry, Laboratory of Oral Histopathology-
Autor(es): dc.contributorUniversity of Brasilia, Faculty of Medicine, Laboratory of Clinical Genetics-
Autor(es): dc.contributorUniversity of Brasilia, University Hospital of Brasilia, Unit of Pediatric Nephrology-
Autor(es): dc.contributorUniversity of Brasilia, University Hospital of Brasilia, Unit of Pediatric Nephrology-
Autor(es): dc.contributorUniversity of Brasilia, Faculty of Health Sciences, Department of Dentistry, Laboratory of Oral Histopathology-
Autor(es): dc.contributorUniversity of Brasilia, University Hospital of Brasilia, Unit of Oral Health, Oral Care Center for Inherited Diseases-
Autor(es): dc.creatorLeite, Luan Deives Rodrigues-
Autor(es): dc.creatorResende, Kêmelly Karolliny Moreira-
Autor(es): dc.creatorRosa, Lídia dos Santos-
Autor(es): dc.creatorMazzeu, Juliana Forte-
Autor(es): dc.creatorOliveira, Livia Claudio de-
Autor(es): dc.creatorScher, Maria do Carmo Sorci Dias-
Autor(es): dc.creatorAcevedo, Ana Carolina-
Autor(es): dc.creatorYamaguti, Paulo Marcio-
Data de aceite: dc.date.accessioned2025-03-18T19:30:46Z-
Data de disponibilização: dc.date.available2025-03-18T19:30:46Z-
Data de envio: dc.date.issued2024-10-31-
Data de envio: dc.date.issued2024-10-31-
Data de envio: dc.date.issued2022-
Fonte completa do material: dc.identifierhttp://repositorio.unb.br/handle/10482/50775-
Fonte: dc.identifier.urihttp://educapes.capes.gov.br/handle/capes/969668-
Descrição: dc.descriptionWe 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.-
Descrição: dc.descriptionHospital Universitário de Brasília (HUB)-
Descrição: dc.descriptionFaculdade de Ciências da Saúde (FS)-
Descrição: dc.descriptionDepartamento de Odontologia (FS ODT)-
Descrição: dc.descriptionFaculdade de Medicina (FM)-
Idioma: dc.languageen-
Publicador: dc.publisherInternational Advancement Center for Medicine & Health Research Co., Ltd.-
Relação: dc.relationhttps://www.irdrjournal.com/article/2445-
Direitos: dc.rightsAcesso Aberto-
Palavras-chave: dc.subjectAmelogênese imperfeita-
Palavras-chave: dc.subjectOsteopetrose-
Palavras-chave: dc.subjectAcidose tubular renal-
Palavras-chave: dc.subjectAnidrase carbônica II-
Título: dc.titleCarbonic anhydrase II deficiency syndrome with amelogenesis imperfecta linked to a homozygous CA2 deletion-
Tipo de arquivo: dc.typelivro digital-
Aparece nas coleções:Repositório Institucional – UNB - Rep. 1

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