Article
X-linked hearing loss: two gene mutation examples provide generalizable implications for clinical care.
American journal of audiology - 1 Jun 2014
Stanton Susan G, Griffin Anne, Stockley Tracy L, Brown Christine, Young Terry-Lynn, Benteau Tammy, Abdelfatah Nelly
Abstract excerpt
PURPOSE: To describe the inheritance patterns and auditory phenotype features of 3 Canadian families with mutations in 2 X-linked "deafness" genes (DFNX). METHOD: Audiological, medical, and family histories were collected and family members interviewed to compare hearing thresholds and case histories between cases with mutations in SMPX versus POU3F4. RESULTS: The family pedigrees reveal characteristic X-linked...
Topics
- Age of Onset
- Audiometry, Pure-Tone
- Auditory Threshold
- Child, Preschool
- Chromosome Deletion
- Codon, Nonsense
- Diagnosis, Differential
- Exons
- Female
- Genetic Carrier Screening