Auditory Neuropathy Spectrum Disorder (ANSD)—Clinical Characteristics and Pathogenic Variant Analysis of Three Nonsyndromic Deafness Families

Table 2

Genotype and phenotype of four individuals with ANSD in this study.

Subjects	Genotype	ABR	DPOAE	CM	ASSR
					Right ear	Light ear
1-II-2	c.[2688del];[2688del]	Absent	Bil absent	Present	Profound	Profound
1-II-3	c.[2688del];[2688del]	Absent	Bil present	Present	Profound	Profound
2-II-1	c.[4960G>A];[1469C>G]	Absent	Bil present	Present	Severe	Severe
3-II-4	c.[2675A>G];[2977_2978del]	Absent	Bil present	Present	Profound	Profound

Abbreviations: ABR, auditory brainstem response; CM, cochlear microphonics; DPOAE, distortion product otoacoustic emissions; ASSR, multifrequency steady-state auditory evoked response; Bil, bilateral.