A case of Waardenburg syndrome type I with congenital sensorineural hearing loss

Figures & data

Figure 1. Pre-operative audiogram of the patient showed the bilateral profound hearing loss with Pure Tone Average (PTA) > 90 dB.

Table 1. The genetic test result: the mutation of the PAX gene.

NO.	Genes	Transcript	Chr_Location (GRCh37/hg19)	Nucleic Acid Alteration	Amino Acid Alteration	Zygosity	Source of variation	Classification
1	PAX3	NM_181457	chr2:223086088	c.811C > T	p.Arg271Cys	Het	Unknown	Likely pathogenic

Figure 2. Post-operative audiogram of the patient (A: right ear; B: left ear). The results were better than the normal ‘speech banana’ (red dots), indicated that the ability to hear and understand speech improved remarkably.

Table 2. Genes related to WS.

Type of WS	Gene involved
Waardenburg type I (WS1)	PAX3
Waardenburg type II (WS2)	MITF, SNAI2, SOX10
Waardenburg type III (WS3)	PAX3
Waardenburg type IV (WS4)	EDNRB, EDN3, SOX10

Adapted from Song [4].

Song J, Feng Y, Acke FR, et al. Hearing loss in Waardenburg syndrome: a systematic review. Clin Genet. 2016;89(4):416–425.

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