Stereocilin gene variants associated with episodic vertigo: expansion of the DFNB16 phenotype

摘要

Pedigree of the family segregating DFNB16 and episodic vertigo. Pedigree indicating three members affected by moderate sensorineural hearing loss and episodic vertigo. Segregation of the variants is shown below each symbol. Bilateral tone audiograms from the three affected individuals homozygous, or compound heterozygous, for the variants. Chromatograms showing part of exon 20 using specific primers from a non-carrier (top row), a heterozygous individual (second row), and an individual homozygous for the c.4027 C > T nonsense variant (third row), respectively. The bottom chromatogram is from a non-carrier using primers that anneal to both and . The position with a sequence divergence between and (c.3931-81) is boxed. Cytoscan HD Array analysis showing the heterozygous 97 kb deletion (red box) spanning in ind. III:6 and his unaffected father (II:4). del: 97 kb deletion spanning the entire gene