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Table 1 Summary of clinical data for the 15 ARNSHL patients from 14 unrelated families with MYO15A variants

From: Genotype-phenotype correlation analysis of MYO15A variants in autosomal recessive non-syndromic hearing loss

Family ID

Gender

Age of test (year)

Zygosity

Nucleotide Change (NM_016239.3)

Amino Acid Change (NP_057323.3)

Protein Domain

Hearing impairment phenotype

Method of hearing rehabilitation

Age of onset (year)

Severity (PTA)

Type of audiometry

139,408

M

23

Hom

c.6479C > T

p.Pro2160Leu

MyTH4 1

Congenital

Profound

Flat

CI(L)

1,507,361

M

3

Het

c.6796G > A

p.Val2266Met

Other

Congenital

Profound

Flat

HA(Bi)

c.8771G > A

p.Arg2924His

SH3

1,507,382

M

6

Het

c.4666G > A

p.Ala1556Thr

Motor

Pre-lingual(5 yr) progressive

Severe / residual hearing of low frequencies

Down-sloping

HA(Bi)

c.6177 + 1G > T

Splice site

Other

1,606,852

M

2

Het

c.7708_7709insCA

p.Gln2571Hisfs*35

Other

Congenital

Profound

Flat

Nothing

c.5977C > T

p.Arg1993Trp

Other

1,607,486–1

F

62

Het

c.4823C > A

p.Ala1608Glu

Motor

Congenital

Profound

Flat

Nothing

c.7396-1G > A

Splice site

Other

1,607,486–2

M

66

Het

c.4823C > A

p.Ala1608Glu

Motor

Congenital

Profound

Flat

Nothing

c.7396-1G > A

Splice site

Other

1,607,107

F

1

Het

c.5507 T > C

p.Leu1836Pro

Motor

Congenital

Profound

Flat

CI(R)

c.8324G > A

p.Arg2775His

FERM 1

1,607,545

F

3

Het

c.855dupT

p.Pro286Serfs*15

N-terminal

Congenital progressive

Severe /residual hearing of low frequencies

Down-sloping

HA(Bi)

c.3524dupA

p.Ser1176Valfs*14

N-terminal

c.7822G > A

p.Asp2608Asn

Other

1,607,551

M

30

Het

c.4441 T > C

p.Ser1481Pro

Motor

Congenital

Severe

Flat

HA(Bi)

c.8033_8056del

p.Asn2678fs

Other

1,707,735

M

5

Het

c.3742C > T

p.Arg1248Trp

Motor

Congenital

Severe

Flat

HA(Bi)

c.10251_10253delCTT

p.Phe3420del

FERM 2

1,707,757

F

6

Het

c.5692C > T

P.Arg1898*

Motor

Congenital

Severe

Flat

HA(Bi)

c.7396-1G > A

Splice site

Other

1,707,773

F

3

Het

c.4252G > A

p.Gly1418Arg

Motor

Congenital

Profound

Flat

CI(R)

c.4596 + 1G > A

Splice site

Motor

1,897,966

M

6

Het

c.5964 + 3G > A

Splice site

Other

Congenital

Profound

Flat

CI(R)

c.8791del

p.Trp2931Glyfs*103

SH3

1,897,999

F

28

Het

c.4747 T > C

p.Ser1583Pro

Motor

Congenital

Profound

Flat

Nothing

c.10502 T > A

p.Leu3501Glu

Other

1,801,948

M

16

Het

c.4597-2A > G

Splice site

Motor

Congenital

Profound

Flat

HA(Bi)

c.8077del

p.Leu2693Cysfs*45

FERM 1

c.10420A > G

p.Ser3474Glya

FERM 2

  1. Abbreviations: L Left, R Right, Bi Bilateral, CI Cochlear Implant, HA Hearing aid, F Female, M Male
  2. a The pathogenicity of the Ser3474Gly variant is quite problematic due to the finding of two homozygotes with an unknown phenotype in the ExAC database, and because it has been reported as not pathogenic in a Korean DFNB3 family
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BMC Medical Genetics

ISSN: 1471-2350

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