Skip to main content
Fig. 1 | BMC Medical Genetics

Fig. 1

From: A novel nonsense mutation in MYO15A is associated with non-syndromic hearing loss: a case report

Fig. 1

Molecular genetics and clinical analysis. a Family pedigree diagram. Filled symbols and opened symbols indicate affected and unaffected individuals, respectively. Arrows indicate the proband in this family. b Auditory steady state response (ASSR) audiogram of left and right ears of the affected proband showed profound hearing loss. c Auditory brainstem response (ABR) demonstrated no waveforms response for click stimulus at 100 dB HL of both ears of the proband. d Distortion product otoacoustic emission (DPOAE) audiogram of both ears of the proband. The DPOAE were detected in 500, 1,000, 2,000, 4,000, 60,00, and 8000 Hz frequencies. The stimulus tolerance is 5 dB above noise level. e Sanger sequencing results of the c.6892C > T and c.10251_10253delCTT variants in all family members. Arrows indicate the position of the nucleotide changes identified in this study. I-2, II-1, II-2 carried the 6892C > T mutation in MYO15A, and I-1, II-1, II-3 carried the c.10251_10253delCTT mutation in MYO15A

Back to article page