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. 2024 Oct 16;143(11):1379–1399. doi: 10.1007/s00439-024-02706-w

Table 2.

Possibly causative variants in candidate deafness genes in group AR

Gene Variant Findingsa
ANKRD17

Chr4(GRCh37):g.74027206T > C

NM_032217.5:c.548-141A > G

p.? (homozygous)

 Possibly causative, no segregation analysis possible
ELK1

ChrX(GRCh37):g.47497233G > A

NM_001114123.3:c.1003C > T

p.(Arg335Trp) (hemizygous)

 Possibly causative, no segregation analysis possible
ENOX2

ChrX(GRCh37):g.129822965G > A

NM_182314.3:c.212C > T

p.(Thr71Ile) (hemizygous)

 Possibly causative, no segregation analysis possible
HEPH

ChrX(GRCh37):g.65427064G > T

NM_138737.4:c.2481G > T

p.(Lys827Asn) (hemizygous)

 Possibly causative, no further segregation analysis possible
SHPRH

Chr6(GRCh37):g.146244887A > G NM_001370327.1:c.3437 T > C

p.(Ile1146Thr)

 Possibly causative, no further segregation analysis possible

Chr6(GRCh37):g.146271582 T > G NM_001042683.1:c.800A > C

p.(Glu267Ala)
SRPX

ChrX(GRCh37):g.38009034A > G

NM_006307.5:c.1325 T > C

p.(Ile442Thr) (hemizygous)

 Possibly causative, no further segregation analysis possible
YIPF6

ChrX(GRCh37):g.67733173G > A

NM_001195214.2:c.62G > A

p.(Arg21His) (hemizygous)

 Possibly causative, no segregation analysis possible

Variants are in heterozygous state unless stated otherwise

aOne cell per subject