Fig. 1.

Pedigree of family DEM4671 and audiometry. (A) Pedigree of the Pakistani family DEM4671 displaying genotypes for the variant THBS1 (NM_003246.4) [c.1470del: p.(Ile491Serfs*45)] for each family member that has an available DNA sample. A star indicates the hearing-impaired family member whose DNA sample underwent exome sequencing. Females are represented by circles and males by squares. Individuals with solid symbols have NSHI while those with clear symbols are unaffected. (B–D) Air conduction thresholds for affected members IV:2, IV3 and IV:5 respectively. IV:2 has profound hearing impairment in the high frequencies and moderate to severe in the mid to low frequencies. IV:3 and IV:5 have profound bilateral HI in both ears. The audiograms display a decrease in hearing threshold at higher frequencies. Circles with smooth connecting lines represent the right ear and crosses with dotted connecting lines, the left ear