FIGURE

Fig. 1

ID

ZDB-FIG-210514-21

Publication

Vona et al., 2021 - A biallelic variant in CLRN2 causes non-syndromic hearing loss in humans

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Fig. 1

Pedigree, audiological data, genetic data, and locus mapping. a The consanguineous family of Iranian origin with hearing loss and segregation of the CLRN2 c.494C > A variant. Linked haplotypes harbouring the pathogenic variant coloured in red with meiotic recombination SNP markers underlined. SNP positions are annotated using the GRCh37 human genome assembly. b Pure-tone audiograms from affected individuals IV-1 (red) and IV-6 (blue), as well as an unaffected heterozygous individual V-1 (green). Air-conduction thresholds in dB HL for the right and left ears are represented by circles and crosses, respectively. Bone-conduction thresholds are represented by < and > for right and left ears, respectively, and confirm a sensorineural hearing loss in the affected individuals. c Linkage mapping reveals a 14.96 Mb locus on chromosome 4 containing CLRN2. d Sequence electropherograms showing the homozygous, heterozygous and WT images of the CLRN2 c.494C > A; pThr165Lys pathogenic variants

Expression Data

Expression Detail

Antibody Labeling

Phenotype Data

Phenotype Detail

Acknowledgments

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