Pathogenic variants of the calcium binding protein 2 ( CABP2 ) gene have been reported to cause a rare form of autosomal recessive non-syndromic hearing loss, otherwise known as DFNB93. To date, reports of DFNB93 have originated from Europe and Asia. We report the first known case of CABP2 -related hearing loss in North America. The patient was diagnosed in infancy with sensorineural hearing loss (SNHL)....
No actionable change to routine clinical practice; however, clinicians encountering unexplained autosomal recessive non-syndromic hearing loss should consider CABP2 genetic testing, particularly in cases where common mutations have been ruled out.
Expanding the known geographic and ethnic distribution of CABP2-related hearing loss (DFNB93) has implications for genetic counselling and the prioritisation of next-generation sequencing panels in North American populations.
- 01First documented North American case of CABP2-related (DFNB93) non-syndromic hearing loss.
- 02CABP2 variants cause autosomal recessive hearing loss without other syndromic features.
- 03Previously reported primarily in Middle Eastern and South Asian populations.
- 04Case expands the known geographic and ethnic range of this rare condition.
- 05Published in BMJ Case Reports.
This is the first reported North American case of CABP2-related autosomal recessive non-syndromic hearing loss (DFNB93).
studysupported- PMID
- 42448438
- DOI
- 10.1136/bcr-2026-273069.
- Journal
- BMJ Case Reports
- Publication type
- case_report
- Evidence level
- 4
- Sample size
- 1
- Population
- Single North American patient with autosomal recessive non-syndromic hearing loss
- Intervention
- Genetic characterisation of CABP2 variant
Primary outcomes
Identification and characterisation of CABP2-related hearing loss in a North American patient