Table 1.

Clinical and genetic data of all affected family members

Pat. ID	Sex	Age (years)	PTPRQ genotype		Age of HL onset (years)	Age at PTA testing (years)	PTA results—hearing thresholds (dB)
			cDNA level	Protein level			Tested ear	0.125 kHz	0.25 kHz	0.5 kHz	1 kHz	2 kHz	4 kHz	8 kHz
III.2	F	56	c.[6881G>A];[=]	p.[(Trp2294*)];[(=)]	8	54	R	N/A	25	25	20	45	50	70
							L	N/A	25	25	20	35	65	90
IV.2	F	36	c.[6881G>A];[=]	p.[(Trp2294*)];[(=)]	7	35	R	15	20	30	65	75	90	70
							L	15	20	30	60	65	80	60
IV.3	F	29	c.[6881G>A];[=]	p.[(Trp2294*)];[(=)]	28	28	R	N/A	20	15	15	40	40	60
							L	N/A	15	10	20	40	35	40
IV.4	F	32	c.[6881G>A];[=]	p.[(Trp2294*)];[(=)]	8	28	R	20	20	30	40	50	50	50
							L	30	20	20	20	30	40	30
IV.6	M	28	c.[6881G>A];[=]	p.[(Trp2294*)];[(=)]	27	27	R	N/A	10	5	10	20	25	20
							L	N/A	5	10	10	5	20	25
IV.7	M	21	c.[6881G>A];[=]	p.[(Trp2294*)];[(=)]	10	16	R	30	30	25	20	35	35	35
							L	30	30	25	25	35	35	45
V.1	M	14	c.[6881G>A];[=]	p.[(Trp2294*)];[(=)]	10	12	R	15	10	15	10	30	45	35
							L	15	10	15	15	45	45	55
V.5	M	9	c.[6881G>A];[=]	p.[(Trp2294*)];[(=)]	4	7	R	20	15	15	25	55	60	50
							L	15	15	10	20	35	50	45

Genotypes description using NM_001145026.2 and NP_001138498.1 reference sequences

HL hearing loss, PTA pure tone audiometry, R right, L left, dB decibels, kHz kilohertz, F female, M male, N/A not available, = normal allele