Clinical characterizations and molecular genetic study of two co-segregating variants in PDZD7 and PDE6C genes leading simultaneously to non-syndromic hearing loss and achromatopsia

Clinical characterizations and molecular genetic study of two co-segregating variants in PDZD7 and PDE6C genes leading simultaneously to non-syndromic hearing loss and achromatopsia

Abstract Background Autosomal recessive non-syndromic hearing loss (NSHL) and cone dystrophies (CODs) are highly genetically and phenotypically heterogeneous disorders. In this study, we applied the whole exome sequencing (WES) to find the cause of HL and COD in an Iranian consanguineous family with...

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Bibliographic Details
Main Authors: Zahra Nouri, Akram Sarmadi, Sina Narrei, Hamidreza Kianersi, Farzan Kianersi, Mohammad Amin Tabatabaiefar
Format: Article
Language:English
Published: BMC 2024-07-01
Series:BMC Medical Genomics
Subjects:
Hearing loss
Cone dystrophy
Achromatopsia
Whole exome sequencing
PDZD7
PDE6C
Online Access:https://doi.org/10.1186/s12920-024-01942-3
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