Biallelic variants in TMIE and PDE6B genes mimic Usher syndrome

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...

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Bibliographic Details
Published in:Gene reports 2024-09, Vol.36, p.101954, Article 101954
Main Authors: Abdi, Samia, Makrelouf, Mohamed, Rous, Issa Nazim, Ounnoughi, Kheireddine, Zenati, Akila, Petit, Christine, Bonnet, Crystel
Format: Article
Language:English
Subjects:
Life Sciences
PDE6B
Retinitis pigmentosa
TMIE
Usher syndrome
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Summary: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. •Importance of whole exome sequencing in avoiding clinical misdiagnosis•High Consanguinity rate leads to comorbidity•Earlier molecular diagnosis of deaf-blindness is of utmost importance
ISSN:2452-0144
2452-0144
DOI:10.1016/j.genrep.2024.101954