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Odontohypophosphatasia caused by a novel combination of two heterozygous variants: a case report.
- Source :
-
The Journal of clinical pediatric dentistry [J Clin Pediatr Dent] 2023 Jul; Vol. 47 (4), pp. 111-115. Date of Electronic Publication: 2023 Jul 03. - Publication Year :
- 2023
-
Abstract
- Hypophosphatasia (HPP) is a rare genetic disorder mainly characterized by skeletal dysplasia that results from a deficiency in tissue-nonspecific alkaline phosphatase (TNSALP), which is encoded by the alkaline phosphatase ( ALPL ) gene. Odontohypophosphatasia (odonto-HPP) is a mild form of HPP characterized by oral symptoms, such as premature loss of primary teeth. This study was to describe a 4-year-old boy with premature loss of primary teeth who was diagnosed with odonto-HPP. X-ray radiography and laboratory examinations were performed for the diagnosis. Genetic etiology was revealed by whole-exome sequencing. A novel combination of two variants in the ALPL gene was identified in this case; this combination resulted in the odonto-HPP phenotype. c.346G>A (p.Ala116Thr) was inherited from the proband's father, whereas c.1563C>G (p.Ser521Arg) was inherited from the proband's mother. The proband's 8-year-old sister was a heterozygous carrier of c.346G>A (p.Ala116Thr) in the ALPL gene. Thus far, the proband's sister has been asymptomatic. Our findings indicate that c.346G>A is a pathogenic genetic alteration; c.1563C>G might cause a predisposition to the dental phenotype in combination with c.346G>A. It is important for pediatric dentists to consider a diagnosis of odonto-HPP in children with premature loss of primary teeth.<br />Competing Interests: The authors declare no conflict of interest.<br /> (©2023 The Author(s). Published by MRE Press.)
Details
- Language :
- English
- ISSN :
- 1053-4628
- Volume :
- 47
- Issue :
- 4
- Database :
- MEDLINE
- Journal :
- The Journal of clinical pediatric dentistry
- Publication Type :
- Report
- Accession number :
- 37408354
- Full Text :
- https://doi.org/10.22514/jocpd.2023.041