Corrigendum to “Five Novel Mutations in LOXHD1 Gene Were Identified to Cause Autosomal Recessive Nonsyndromic Hearing Loss in Four Chinese Families”

Table 3

LOXHD1 gene mutations found in patients with DFNB77.

Mutations	Ethnicity	Age of HL diagnosis	Severity of HL	Progression of HL	Reference
c.71delT (p.L24Rfs74)	Turkish	Congenital or prelingual	Severe or profound	NA	[16]
c.246-1G>C	Japanese	Congenital	Profound	Progressive	[17]
c.277G>A (p.D93N)	Chinese	Congenital	Severe-profound	Stable	This study
c.442A>T (p.K148)	NA	NA	NA	NA	[18]
c.486_487delCTinsGG	Saudi Arabian	NA	NA	NA	[19]
c.611-2A>T	Chinese	3 years	Severe-profound	Stable	This study
c.894T>G (p.Y298)	NA	Congenital	Mild-moderate	NA	[20]
c.1255+3A>G	Chinese	Congenital	Severe-profound	Stable	This study
c.1270+4A>C	Japanese	36 years	Mild	Progressive	[17].
c.1588G>T (p.E530)	Qatari	Childhood	Severe-profound	Progressive	[19]
c.1603C>T (p.R535)	American	Childhood	Mild-moderate	NA	[21]
c.1618dupA (p.T540Nfs24)	Dutch	Congenital—1 year	Moderate-severe	Stable-progressive	[10]
c.1730T>G (p.L577R)	Dutch	Congenital—1 year	Moderate-severe	Stable-progressive	[10]
c.1730T>G (p.L577R)	NA	Congenital	Severe-profound	NA	[20]
c.1751C>T (p.T584M)	Chinese	NA	NA	NA	[6]
c.1828G>T (p.E610)	Dutch	2–4 years	Mild	Stable	[10]
c.1843C>T (p.R615W)	Chinese	NA	NA	NA	[8]
c.1904T>C (p.L635P)	Dutch	2-3 years	Mild	Stable-progressive	[10]
c.1938G>A (p.K646K)	NA	Childhood	Mild-moderate	NA	[20]
c.1938G>A (p.K646K)	American	Childhood	Mild-moderate	NA	[21].
c.2008C>T (p.R670)	Iranian	7-8 years	Mild-profound	Progressive	[20]
c.2329C>T (p.Q777)	Chinese	Congenital	Severe-profound	Stable	This study
c.2641G>A (p.G881R)	Dutch	2–4 years	Mild	Stable	[10]
c.2696G>C (p.R899P)	NA	NA	NA	NA	[20]
c.2696G>C (p.R899P)	Dutch	5 years	Moderate	Stable	[10]
c.2696 G>C (p.R899P)	Dutch	Congenital	Mild	Too young to determine	[10].
c.2726C>T (p.T909M)	Japanese	30 years	Profound	Progressive	[17]
c.2825_2827delAGA (p.K942del)	NA	Childhood	Mild-moderate	NA	[20]
c.2863G>T (p.E955)	Turkish	NA	NA	NA	[22]
c.3061C>T (p.R1021)	Indian	Congenital	Severe	Stable	[10]
c.3061+1G>A	Dutch	Congenital	Moderate	NA	[10]
c.3076G>T (p.V1026F)	Japanese	3 years	Profound	Stable	[23]
c.3169C>T (p.R1057)	Dutch	Congenital	Severe	Stable	[10].
c.3281A>G (p.D1094G)	Chinese	NA	NA	NA	[8]
c.3371G>A (p.R1124H)	Cameroonian	Prelingual	Profound	NA	[20]
c.3571A>G (p.T1191A)	Spanish	Congenital	Severe-profound	NA	[24]
c.3578C>T (p.A1193V)	Japanese	Congenital	Moderate	NA	[17]
c.3596T>C (p.L1199P)	NA	NA	NA	NA	[20]
c.3748+1G>C	Dutch	Congenital	Moderate-severe	Stable -progressive	[10]
c.3834G>C (p.W1278C)	Dutch	5 years	Moderate	Stable	[10]
c.3857G>T (p.G1286V)	Japanese	Congenital	Mild	Progressive	[17]
c.3979T>A (p.F1327I)	Cameroonian	Prelingual	Profound	NA	[20]
c.4099G>T (p.E1367)	NA	Congenital	Severe-profound	NA	[20]
c.4212+1G>A	Japanese	Congenital	Profound	Stable	[25]
c.4212+1G>A	Japanese	Congenital—7 years	Mild-profound	Progressive	[26]
c.4213-1G>A	Japanese	5 years	Mild	NA	[17].
c.4217C>T (p.A1406V)	NA	NA	NA	NA	[18]
c.4217C>T (p.A1406V)	NA	Childhood	Mild-moderate	NA	[20]
c.4375+1G>T	Japanese	3 years	Profound	Stable	[23].
c.4480C>T (R1494)	Turkish	NA	NA	NA	[22]
c.4480C>T (p.R1494)	NA	Congenital	Mild-moderate	NA	[20]
c.4480C>T (p.R1494)	Caucasian	40 years	Severe-profound	Progressive	[27]
c.4480C>T (p.R1494)	Japanese	1–6 years	Moderate-severe	Stable	[25]
c.4480C>T (p.R1494)	NA	Childhood	Severe-profound	NA	[20]
c.4526G>A (p.G1509E)	Caucasian	40 years	Severe-profound	Progressive	[27]
c.4623C>G (p.Y1541)	Czech	Congenital	Severe	NA	[26]
c.4678T>C (p.C1560R)	Dutch	2-3 years	Mild	Stable-progressive	[10]
c.4714C>T (p.R1572)	Ashkenazi Jewish	Congenital-prelingual	Severe-profound	NA	[28]
c.4734C>G (p.Y1578)	Japanese	Congenital	Profound	Progressive	[17]
c.4936C>T (p.R1646)	NA	Childhood	Mild-moderate	NA	[20]
c.5086-3C>A	Japanese	30 years	Severe	Progressive	[17]
c.5545G>A (p.G1849R)	Czech	Congenital	Severe	NA	[26]
c.5608C>T (p.R1870W)	Japanese	36 years	Mild	Progressive	[17]
c.5674G>T (p.V1892F)	Japanese	Congenital—7 years	Mild-profound	Progressive	[29]
c.5734G>A (p.D1912N)	Japanese	30 years	Severe	Progressive	[17]
c.5815G>A (p.D1939N)	Chinese	NA	NA	NA	[6]
c.5869G>T (p.E1957)	Japanese	1–6 years	Moderate-severe	Stable	[25]
c.5885C>T (p.T1962M)	Indian	Congenital	Severe	Stable	[10]
c.5888delG (p.G1963Afs136)	Chinese	Congenital	Severe-profound	Stable	This study
c.5894dupG (p.G1965fs)	Arab	Prelingual	Profound	NA	[30]
c.5933G>A (p.G1978D)	Japanese	32 years	Profound	Progressive	[17]
c.5934C>T (p.G1978 G)	Dutch	Congenital	Mild	Too young to determine	[10]
c.5944C>T (p.R1982)	NA	Congenital	Severe-profound	NA	[20]
c.5948C>T (p.S1983F)	Chinese	Congenital	Profound	Stable	[7]
c.6037G>A (p.G2013R)	Japanese	5 years	Profound	Progressive	[17]
c.6162_6164delCCT (p.F2055del)	NA	Congenital	Severe-profound	NA	[20]
c.6168delC (p.C2057Vfs42)	Japanese	3 years	Severe	Progressive	[17]
c.6353G>A (p.G2118E)	NA	Congenital	Mild-moderate	NA	[20]
c.6353G>A (p.G2118E)	Dutch	Congenital	Moderate	NA	[10]
c.6353G>A (p.G2118E)	Dutch	Congenital	Severe	Stable	[10]
c.6353G>A (p.G2118E)	Dutch	Congenital	Moderate-severe	Stable-progressive	[10]
c.6598delG (p.D2200Mfs22)	NA	Childhood	Severe-profound	NA	[20]

LOXHD1 sequence (RefSeq NM_144612.6 and NM_001308013.1) was used as a reference.