Table 1

The contribution of targeted capture and next-generation sequencing to hearing research

Locus and inheritance

Individuals sequenced

Targeted regions

Whole exome region analyzed by bioinformatics

Novel discoveries

Reference


DFNB79

One

2.9 Mb, chromosome 9q34.3

TPRN

Rehman et al. [26]

DFNB82

One

Whole exome

3.1 Mb, 1p13.3

GPSM2

Walsh et al. [29]

Syndromic

(Perrault syndrome)

One

Whole exome

HSD17B4/DBP

Pierce et al. [40]

Syndromic

(3MC)

One

Whole exome

1.81 Mb, 3q27

MASP1

Sirmaci et al. [41]

Dominant and recessive NSHL

Nine

54 known deafness genes, exons

Three novel mutations in known deafness genes

Shearer et al. [25]

DFNA4

One

Whole exome

20 Mb, 19q12-13.4

CEACAM16

Zheng et al. [42]

Syndromic

(Perrault syndrome)

One

4.142-Mb linkage region, chromosome 5q31

HARS2

Pierce et al. [43]

DFNX4

One

X chromosome

12.9 Mb, Xp22

SMPX

Schraders et al. [31]

DFNX4

Two brothers

88 genes, exons, 1 kb promoter regions, 17.5 Mb region, chromosome Xp22.12

17.5 Mb, Xp22.12

SMPX

Huebner et al. [32]

Syndromic

(HSAN1)

One

Whole exome

3.4 Mb, 19p13.2

DNMT1

Klein et al. [44]

Dominant and recessive NSHL

11 unrelated

246 genes responsible for deafness in humans and mice, exons and 40 bp flanking introns

Four novel mutations in known deafness genes

Brownstein et al. [19]

Mitochondrial

(OXPHOS disease)

One

1,034 nuclear genes encoding mitochondrial proteins, entire mtDNA and exons

None

Calvo et al. [45]

Recessive NSHL

One

Whole exome

36.9 Mb, chromosomes 8, 15, 16, 19, 21

Mutation in known deafness gene

Sirmaci et al. [30]

Syndromic

(ADCA-DN)

Five

Whole exome

Mutation in known deafness gene

Winkelmann et al. [46]


Brownstein et al. Genome Biology 2012 13:245   doi:10.1186/gb-2012-13-5-245