Carbonic anhydrase II deficiency syndrome with amelogenesis imperfecta linked to a homozygous <i>CA2</i> deletion

DOI Web Site 参考文献17件
  • Leite Luan Deives Rodrigues
    Oral Care Center for Inherited Diseases, Unit of Oral Health, University Hospital of Brasilia, University of Brasilia, Brasilia, Brazil.
  • Resende Kêmelly Karolliny Moreira
    Oral Care Center for Inherited Diseases, Unit of Oral Health, University Hospital of Brasilia, University of Brasilia, Brasilia, Brazil.
  • Rosa Lídia dos Santos
    Laboratory of Oral Histopathology, Department of Dentistry, Faculty of Health Sciences, University of Brasilia, Brasilia, Brazil.
  • Mazzeu Juliana Forte
    Laboratory of Clinical Genetics, Faculty of Medicine, University of Brasilia, Brasilia, Brazil.
  • Oliveira Livia Claudio de
    Unit of Pediatric Nephrology, University Hospital of Brasilia, University of Brasilia, Brasilia, Brazil.
  • Scher Maria do Carmo Sorci Dias
    Unit of Pediatric Nephrology, University Hospital of Brasilia, University of Brasilia, Brasilia, Brazil.
  • Acevedo Ana Carolina
    Laboratory of Oral Histopathology, Department of Dentistry, Faculty of Health Sciences, University of Brasilia, Brasilia, Brazil.
  • Yamaguti Paulo Marcio
    Oral Care Center for Inherited Diseases, Unit of Oral Health, University Hospital of Brasilia, University of Brasilia, Brasilia, Brazil.

抄録

<p>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. </p>

収録刊行物

  • Intractable & Rare Diseases Research

    Intractable & Rare Diseases Research 12 (3), 202-205, 2023-08-31

    特定非営利活動法人 バイオ＆ソーシャル・サイエンス推進国際研究交流会

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