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. Author manuscript; available in PMC: 2023 Sep 25.
Published in final edited form as: Hum Mutat. 2004 Oct;24(4):305–311. doi: 10.1002/humu.20084

Figure 1.

Figure 1.

Genotype-phenotype correlations for biallelic GJB2 mutation carriers show that percent hearing impairment is highest in persons who are [c.35delG]+[c.35delG] homozygotes and lowest in persons who carry two missense mutations of GJB2 (P<0.05; Fisher exact test). In persons who are compound heterozygotes and carry a single c.35delG allele, severe-to-profound deafness is more common than in persons who carry two missense mutations of GJB2 (P<0.05; Fisher exact test) (A, [c.35delG]+[c.35delG] homozygotes; B, [c.35delG]+[non-c.35delG] compound heterozygotes; C, biallelic missense mutations of GJB2).