Genetic heterogeneity in GJB2, COL4A3, ATP6V1B1 and EDNRB variants detected among hearing impaired families in Morocco

Autor: Imane AitRaise, Ghita Amalou, Amale Bousfiha, Hicham Charoute, Hassan Rouba, Houria Abdelghaffar, Crystel Bonnet, Christine Petit, Adbelhamid Barakat
Přispěvatelé: Institut Pasteur du Maroc, Réseau International des Instituts Pasteur (RIIP), University Hassan II [Casablanca], Génétique et Physiologie de l'Audition, Institut Pasteur [Paris] (IP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU), Institut de l'Audition [Paris] (IDA), Institut Pasteur [Paris] (IP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Cité (UPCité), Petit, Christine
Rok vydání: 2022
Předmět:
Collagen Type IV
Vacuolar Proton-Translocating ATPases
MESH: Mutation
MESH: Pedigree
Hearing Loss
Sensorineural
[SDV]Life Sciences [q-bio]
MESH: Vacuolar Proton-Translocating ATPases
MESH: Deafness
Deafness
[SDV.GEN.GH] Life Sciences [q-bio]/Genetics/Human genetics
Moroccan patients
Autoantigens
Connexins
Genetic Heterogeneity
Hearing
MESH: Connexin 26
Genetics
Humans
[SDV.MHEP.OS]Life Sciences [q-bio]/Human health and pathology/Sensory Organs
MESH: Hearing
MESH: Hearing Loss
MESH: Collagen Type IV
Molecular Biology
MESH: Humans
Whole exome sequencing
MESH: Genetic Heterogeneity
Hearing loss
General Medicine
Receptor
Endothelin B
MESH: Receptor
Endothelin B
Pedigree
MESH: Connexins
Connexin 26
[SDV] Life Sciences [q-bio]
Morocco
MESH: Autoantigens
MESH: Hearing Loss
Sensorineural
[SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics
[SDV.MHEP.OS] Life Sciences [q-bio]/Human health and pathology/Sensory Organs
MESH: Morocco
Mutation
Zdroj: Molecular Biology Reports
Molecular Biology Reports, 2022, 49 (5), pp.3949-3954. ⟨10.1007/s11033-022-07245-z⟩
ISSN: 1573-4978
0301-4851
DOI: 10.1007/s11033-022-07245-z
Popis: International audience; Background: Deafness is the most prevalent human sensorineural defect. It may occur as a result of an external auditory canal involvement, or a deficiency in the sound conduction mechanism, or an impairment of the cochlea, the cochlear nerve or central auditory perception. The genetic causes are the most common, as approximately 70% of hearing disorders are of hereditary origin, divided into two groups, syndromic (associated with other symptoms) and no syndromic (isolated deafness).Methods: A whole exome sequencing was performed to identify the genetic cause of hearing loss in six Moroccan families and Sanger sequencing was used to validate mutations in these genes.The results: The results of four out of the six families revealed four genetic variants in the genes GJB2, COL4A3, ATP6V1B1 and EDNRB responsible for non-syndromic and syndromic hearing loss. Multiple Bioinformatics programs and molecular modelling predicted the pathogenic effect of these mutations.Conclusions: We identified in Moroccan deaf patients four homozygous mutations. These results show the importance of whole exome sequencing to identify pathogenic mutations in heterogeneous disorders with multiple genes responsible.
Databáze: OpenAIRE
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