Biallelic variants in TMIE and PDE6B genes mimic Usher syndrome - Collège de France
Article Dans Une Revue Gene Reports Année : 2024

Biallelic variants in TMIE and PDE6B genes mimic Usher syndrome

Résumé

In the case of consanguineous families, comorbidity cannot be ruled out. Here, we reported a child of eleven years-old who presented profound congenital hearing impairment and progressive visual defect who was suspected to have Usher syndrome. We searched for mutations in Usher syndrome genes but we failed to detect any. We then performed whole exome sequencing to identify the causality of their phenotype. Interestingly, we found two homozygous missense variants, p.(Arg84Trp) in TMIE, responsible for deafness and p.(His337Arg) in PDE6B, responsible for retinitis pigmentosa. The combination of both variants mimics Usher syndrome. This article highlights the importance of genetics in avoiding clinical misdiagnosis, which is important for genetic counseling and in the perspective of gene therapy.
Fichier principal
Vignette du fichier
1-s2.0-S2452014424000773-main.pdf (3.21 Mo) Télécharger le fichier
Origine Publication financée par une institution
Licence

Dates et versions

pasteur-04691606 , version 1 (09-09-2024)

Licence

Identifiants

Citer

Samia Abdi, Mohamed Makrelouf, Issa Nazim Rous, Kheireddine Ounnoughi, Akila Zenati, et al.. Biallelic variants in TMIE and PDE6B genes mimic Usher syndrome. Gene Reports, 2024, 36, pp.101954. ⟨10.1016/j.genrep.2024.101954⟩. ⟨pasteur-04691606⟩
14 Consultations
15 Téléchargements

Altmetric

Partager

More