PMID- 37662627
OWN - NLM
STAT- PubMed-not-MEDLINE
LR  - 20230905
IS  - 2186-3644 (Print)
IS  - 2186-361X (Electronic)
IS  - 2186-3644 (Linking)
VI  - 12
IP  - 3
DP  - 2023 Aug
TI  - Carbonic anhydrase II deficiency syndrome with amelogenesis imperfecta linked to 
      a homozygous CA2 deletion.
PG  - 202-205
LID - 10.5582/irdr.2023.01033 [doi]
AB  - 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.
CI  - 2023, International Research and Cooperation Association for Bio & Socio - 
      Sciences Advancement.
FAU - Leite, Luan Deives Rodrigues
AU  - Leite LDR
AD  - Oral Care Center for Inherited Diseases, Unit of Oral Health, University Hospital 
      of Brasilia, University of Brasilia, Brasilia, Brazil.
FAU - Resende, Kemelly Karolliny Moreira
AU  - Resende KKM
AD  - Oral Care Center for Inherited Diseases, Unit of Oral Health, University Hospital 
      of Brasilia, University of Brasilia, Brasilia, Brazil.
FAU - Rosa, Lidia Dos Santos
AU  - Rosa LDS
AD  - Laboratory of Oral Histopathology, Department of Dentistry, Faculty of Health 
      Sciences, University of Brasilia, Brasilia, Brazil.
FAU - Mazzeu, Juliana Forte
AU  - Mazzeu JF
AD  - Laboratory of Clinical Genetics, Faculty of Medicine, University of Brasilia, 
      Brasilia, Brazil.
FAU - de Oliveira, Livia Claudio
AU  - de Oliveira LC
AD  - Unit of Pediatric Nephrology, University Hospital of Brasilia, University of 
      Brasilia, Brasilia, Brazil.
FAU - Scher, Maria do Carmo Sorci Dias
AU  - Scher MDCSD
AD  - Unit of Pediatric Nephrology, University Hospital of Brasilia, University of 
      Brasilia, Brasilia, Brazil.
FAU - Acevedo, Ana Carolina
AU  - Acevedo AC
AD  - Laboratory of Oral Histopathology, Department of Dentistry, Faculty of Health 
      Sciences, University of Brasilia, Brasilia, Brazil.
FAU - Yamaguti, Paulo Marcio
AU  - Yamaguti PM
AD  - Oral Care Center for Inherited Diseases, Unit of Oral Health, University Hospital 
      of Brasilia, University of Brasilia, Brasilia, Brazil.
LA  - eng
PT  - Journal Article
PL  - Japan
TA  - Intractable Rare Dis Res
JT  - Intractable & rare diseases research
JID - 101586847
PMC - PMC10468405
OTO - NOTNLM
OT  - amelogenesis imperfecta
OT  - carbonic anhydrase II
OT  - osteopetrosis
OT  - renal tubular acidosis
COIS- The authors have no conflicts of interest to disclose.
EDAT- 2023/09/04 06:42
MHDA- 2023/09/04 06:43
PMCR- 2023/08/01
CRDT- 2023/09/04 04:46
PHST- 2023/04/19 00:00 [received]
PHST- 2023/08/18 00:00 [revised]
PHST- 2023/08/21 00:00 [accepted]
PHST- 2023/09/04 06:43 [medline]
PHST- 2023/09/04 06:42 [pubmed]
PHST- 2023/09/04 04:46 [entrez]
PHST- 2023/08/01 00:00 [pmc-release]
AID - 10.5582/irdr.2023.01033 [doi]
PST - ppublish
SO  - Intractable Rare Dis Res. 2023 Aug;12(3):202-205. doi: 10.5582/irdr.2023.01033.