Fig. 1
From: Genetic insights into PHARC syndrome: identification of a novel frameshift mutation in ABHD12
Pedigree information and hearing level in family. (A) Pedigree of the family indicates a pattern autosomal recessive inheritance. The pedigree shows co-segregation of ABHD12 variant ((+) = NM_001042472.3:c.601dup; p.(Val201GlyfsTer4). In this image, the arrow presents proband, black symbols implicate affected; white symbols represent unaffected; circles are females; squares are men; and parallel lines indicate consanguineous marriage. (B) Pure tone audiograms of an unaffected father. (C) Pure tone audiograms of an unaffected mother (D) Audioprofile indicates progressive hearing loss in patient IV.1 in 8-year, 11-year, 18-year, 24-year and 25-year, respectively. (E) Audioprofile indicates progressive hearing loss in patient IV.2 in 7-year, 11-year, 16-year and 18-year, respectively. The frequency is shown in hertz (Hz) and the hearing threshold is shown in decibels (dB). The blue ‘×’ and red ‘o’ show results from an air conduction test of the left and right ear, respectively