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Table 1 Summary of the genes analysed in this study

From: Association of SNPs in LCP1 and CTIF with hearing in 11 year old children: Findings from the Avon Longitudinal Study of Parents and Children (ALSPAC) birth cohort and the G-EAR consortium

Gene acronym

Full gene name

Known association of mutations with human audiological condition

Reference

CDH23

Cadherin-23

Non-syndromic deafness, early-onset deafness

[11, 12]

ESPNL

Espin-like

None reported; protein present in hair bundles (rat and chick)

[13]

FSCN2

Fascin-2

None reported; Fscn2 mutation associated with early onset ≤ 16 kHz hearing loss in C57BL/6 J mice (ahl8); protein present in hair bundles (rat, chick, zebrafish)

[8, 13, 32]

HCN2

hyperpolarization activated cyclic nucleotide-gated potassium channel 2

None reported; expressed in cochlear hair cells (mouse, rat)

[46, 47]

LCP1

Plastin-2/L-plastin

None reported; protein present in hair bundles (chick)

[13]

PDCH15

protocadherin-15

Non-syndromic deafness, Usher Syndrome type 1 F

[68, 21]

XIRP2

xin actin-binding repeat containing 2

None reported; protein present in hair bundles (rat and chick)

[13]

ACAA2

acetyl-CoA acyltransferase 2

None reported; ACAA2, c18orf32, CTIF, DYM, MYO5B and SMAD7 are human orthologues of six genes in the ahl9 QTL on mouse chromosome 18 that is associated with low frequency hearing loss in BXD recombinant inbred mice by 2–3 months of age.

[15]

c18orf32

chromosome 18 open reading frame 32

CTIF

CBP80/20-dependent translation initiation factor

DYM

dymeclin

MYO5B

myosin VB

SMAD7

SMAD family member 7