Identification of rare missense variants in the <scp><i>BSN</i></scp> gene co‐segregating with chronic otitis media in a consanguineous Pakistani family
A deep intronic variant of BSN has been previously implicated in the etiology of childhood ear infections. Our study further supports a link between BSN-impaired function and ear infection and CSOM in children.
Authors
- Rehan Sadiq Shaikh (ORCID: https://orcid.org/0000-0003-3648-6965)
- Ayesha Yousaf
- Sairah Yousaf
- Zubair M. Ahmed (ORCID: https://orcid.org/0000-0003-2914-4502)
- Asra S. Shabbir
- Regie Lyn P. Santos‐Cortez (ORCID: https://orcid.org/0000-0002-9958-2535)
- Rafia Yousaf
- Saima Riazuddin
Institutions
- University of Maryland, Baltimore (US)
- Bahauddin Zakariya University (PK)
- University of the Punjab (PK)
- Nishtar Medical College and Hospital (PK)
- Government College University, Faisalabad (PK)
- Centre of Excellence in Molecular Biology (PK)
- University of Colorado Anschutz Medical Campus (US)
- University of Management and Technology (PK)
Publication Details
- Journal
- Molecular Genetics & Genomic Medicine
- Published
- 2024-09-01
- DOI
- https://doi.org/10.1002/mgg3.2478
- Citations
- 1
- Primary Topic
- Ear Surgery and Otitis Media
- Type
- article
- Field-Weighted Citation Impact
- 0.58
Funders
- National Institute on Deafness and Other Communication Disorders