Fig. 1: Clinical significance of the MPZL2 c.220 C > T mutation. | Nature Communications

Fig. 1: Clinical significance of the MPZL2 c.220 C > T mutation.

From: PAM-flexible adenine base editing rescues hearing loss in a humanized MPZL2 mouse model harboring an East Asian founder mutation

Fig. 1

a Schematic flow diagram illustrating the genetic diagnosis study of symmetric, mild-to-moderate, non-syndromic sensorineural hearing loss (ns-SNHL) in children from two tertiary centers. b Gene signatures of symmetric, mild-to-moderate, ns-SNHL in children. The bar plot shows the frequencies of 17 deafness genes that were seen in 2 or more probands from 155 genetically diagnosed families. c Pedigrees and genotypes of 24 affected patients from 20 unrelated DFNB111 families. Arrows, probands; Black filled circles or rectangles, affected patients. d Serial audiograms of 23 affected DFNB111 patients. Red, right ear; Blue, left ear. e MPZL2 mutational landscape on a Lollipop plot (upper), and the prevalence of MPZL2 in trans mutation combinations in our cohort (lower). f The mutational burden of different MPZL2 mutations depending on the genetic ancestry groups in the Chord diagram. g The natural course of hearing loss in DFNB111 patients over decades across different hearing frequencies. Source data for all relevant panels are provided within the Source Data file.

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