FIGURE

Fig. 1

ID

ZDB-FIG-250114-34

Publication

Buonfiglio et al., 2024 - In silico and in vivo analyses of a novel variant in MYO6 identified in a family with postlingual non-syndromic hearing loss from Argentina

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Fig. 1

(A) Pedigree of the family harboring the causative variant p.Arg925Ser located within exon 26 of the MYO6 gene. Whole-exome sequencing was conducted on the proband IV-1, indicated by the arrow. All individuals with hearing impairment are in black. Seven members referred progressive postlingual hearing impairment (five available for the study), compatible with a dominant mode of inheritance. The genetic status ?WT? indicates wild type, ?NA?: not available. (B) Audiograms of the affected family members who participated in the genetic test are shown, revealing the variable expressivity of the pathology. The patient's mother (III-5) and three aunts (III-1, III-3 and III-6) presented mild-moderate to severe and profound postlingual hearing impairment with onset in their thirties. They were all equipped with hearing aids, except III-1 that was cochlear implanted ?CI?.

Expression Data

Expression Detail

Antibody Labeling

Phenotype Data

Phenotype Detail

Acknowledgments

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