Journal
CLINICAL CASE REPORTS
Volume 5, Issue 11, Pages 1785-1788Publisher
WILEY
DOI: 10.1002/ccr3.1184
Keywords
GJB2; hearing loss
Categories
Funding
- National Natural Science Foundation of China [81100716, 81400457, 81570928, 81602389]
- Development and Reform Commission of Hunan Province [31470948]
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Key Clinical Message We report two heterozygous carriers of c.464A>G variation in the GJB2 gene in a Chinese pedigree. The proband with hearing loss most likely inherited the c.464A>G variation from his mother who also carries heterozygous c.79G>A variation and has normal hearing. The pathological significance of c.464A>G variation remains to be determined.
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