Table 1.

The 31 index patients diagnosed at our laboratory

Classification †	Gene	N indexes	N total
5	GJB1	10	18
	PMP22dup	6
	MPZ	2
4	GJB1	2	5
	MPZ	2
	MFN2	1
3	MPZ	3	8
	NEFL	1
	MFN2	4

^†Classification of genetic variants in accordance with the recommendations from the IARC Unclassified Genetic Variants Working Group; 5 = definitely pathogenic, 4 = likely pathogenic, 3 = uncertain, 2 = likely not pathogenic, 1 = definitely not pathogenic [18].