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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