A novel missense variant in CAT gene causing acatalasemia with gangrenous periodontitis (Takahara's disease).
Arch Oral Biol
; 167: 106054, 2024 Nov.
Article
de En
| MEDLINE
| ID: mdl-39079473
ABSTRACT
OBJECTIVES:
Acatalasemia is a very rare disorder characterized by gangrenous oral ulcerations and is caused by biallelic variants in the CAT gene which encodes the catalase enzyme that decomposes the hydrogen peroxide molecules to remove their toxic effect. We report two siblings from a consanguineous Egyptian family presenting with joint hyperlaxity, loose dentitions with gangrenous periodontitis, and early loss of teeth. STUDYDESIGN:
The patients were clinically suspected to have the periodontal type of Ehlers-Danlos syndrome and thus genetic testing of C1S and C1R causative genes was carried out first by Sanger sequencing then exome sequencing (ES) was considered.RESULTS:
No pathogenic variants were detected in C1S and C1R genes then ES revealed a new homozygous missense variant in the CAT gene segregating in the family, c .635 T > G (p.Met212Arg).CONCLUSION:
We describe the first Egyptian cases with acatalasemia and expand the mutational spectrum of this rare disorder. Premature loss of teeth is an emerging finding in our cases and addresses the hazardous systemic manifestations associated with the disorder. The rarity of inherited orodental diseases renders the accurate diagnosis difficult and complicates the symptoms. Therefore, the use of advanced molecular technologies is highly advisable for early diagnosis and management of patients.Mots clés
Texte intégral:
1
Collection:
01-internacional
Base de données:
MEDLINE
Sujet principal:
Pedigree
/
Parodontite
/
Catalase
/
Mutation faux-sens
/
Acatalasie
Limites:
Adolescent
/
Child
/
Female
/
Humans
/
Male
Pays/Région comme sujet:
Africa
Langue:
En
Journal:
Arch Oral Biol
Année:
2024
Type de document:
Article
Pays de publication:
Royaume-Uni