Targeted massive parallel sequencing: the effective detection of novel causative mutations associated with hearing loss in small families

Table 3 Overview of 7 variants showing co-segregation with hearing loss in the families

Family no.	Gene	Exon	Variation type	Nucleotide change	Amino acid change	PhyloP score	Mutation taster^†	SIFT^‡	Allele frequency in controls	References
KNUF21	ACTG1	4	Missense	c.559G>C	p.D187H	2.05	DC	Affected / 0.04	0.00	Novel
KNUF24	EYA4	11	Nonsense	c.863 C>A	p.S288X	2.85	DC	-	0.00	Novel
KNUF29	MYO1F	14	Missense	c.1504 A>G	p.I502V	1.47	DC	Tolerated / 0.50	0.00	Zadro et al., 2009
KNUF34	WFS1	8	Missense	c.2209G>A	p.E737K	2.57	DC	Tolerated / 0.15	0.03^*	Ohtsuki et al., 2000
KNUF46	DIAPH1	16	Missense	c.2032 C>T	p.P678S	1.12	DC	Affected / 0.00	0.00	Novel
KNUF57	POU4F3	2	Missense	c.694G>A	p.E232K	2.34	DC	Affected / 0.00	0.00	Novel
KNUF60	COL11A2	59	Missense	c.4265 C>T	p.P1422L	1.96	PO	Affected / 0.03	0.01^*	Novel

* p.E737K in WFS1 and p.P1422L in COL11A2 found in normal controls were eliminated from the final candidate mutations.
The p.S288X variant in EYA4 was not predicted by SIFT because it is a nonsense variant.
^†DC, disease causing; PO, polymorphism. ^‡ score ranges from 0, damaging to 1, neutral.

ISSN: 1750-1172