Article
Bi-Allelic MARVELD2 Variant Identified with Exome Sequencing in a Consanguineous Multiplex Ghanaian Family Segregating Non-Syndromic Hearing Loss.
International journal of molecular sciences - 3 Apr 2025
Twumasi Aboagye Elvis, Adadey Samuel Mawuli, Alves de Souza Rios Leonardo, Esoh Kevin K, Wonkam-Tingang Edmond, Xhakaza Lettilia, De Kock Carmen, Schrauwen Isabelle, Amenga-Etego Lucas, Lang Dirk, Awandare Gordon A, Leal Suzanne M, Mowla Shaheen, Wonkam Ambroise
Abstract excerpt
Genetic studies and phenotypic expansion of hearing loss (HL) for people living in Africa are greatly needed. We evaluated the clinical phenotypes of three affected siblings presenting non-syndromic (NS) HL and five unaffected members of a consanguineous Ghanaian family. Analysis of exome sequence data was performed for all affected and one unaffected family members. In-depth genetic and cellular characterization...
Topics
- Humans
- Exome Sequencing
- Ghana
- Male
- Pedigree
- Female
- Consanguinity
- Hearing Loss
- Frameshift Mutation
- Adult