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. 2022 Mar 30;141(3-4):709–735. doi: 10.1007/s00439-022-02448-7

Table 1.

Overview of ultra-rare USH genes reported in the literature

Gene
(OMIM Ref.)		 Protein product Function Clinical diagnosis Variant(s) Population References

PDZD7

(#612,971)

 PDZD7 domain-containing 7 Scaffold protein USH2

c.166_167insC p.(Arg56Profs*24);

USH2A c.4338_4339del p.(Cys1447Glnfs*29)

c.1750-2A > G p.(?); USH2A c.4515_4518 del

p.(Arg1505Serfs*7);p.(Thr4439Ile)

c.2194_2203del p.(Cys732Leufs*18);

ADGRV1 c.17137delG p.(Ala5713Leufs*3)

French Canadian

German

German

 Ebermann et al. (2010)

HARS

(#142,810)

 Histidyl-tRNA synthetase

Aminoacyl-tRNA

synthetase

 USH3 Biallelic c.1361A > C p.(Tyr454Ser)

Plain population of Pennsylvania,

Old Order Amish population of Ontario

Puffenberger

et al. (2012)
USH c.410 G > A p.(Arg137Gln);c.262 G > A p.(Gly88Ser) Swiss Tiwari et al. (2016)

ABHD12

(#613,599)

 α/β-hydrolase domain-containing 12 Serine hydrolase PHARC Biallelic c.193C > T p.(Arg65*) Lebanese Eisenberger et al. (2012)
PHARC Biallelic c.316 + 2A > T p.(?) Japanese Youshimura et al. (2015)
Atypical USH c.316 + 5 G > A p.(?);c.477 G > A p.(Trp159*) Chinese Sun et al. (2018)
Non-syndromic autosomal recessive RP c.319delA p.(Arg107Glufs*8);c.605C > T p.(Thr202Ile) Spanish Nishiguchi et al. (2014)

CIB2

(#605,564)

 Calcium and integrin-binding family member 2 Calcium sensor USH1J Biallelic c.192G > C p.(Glu64Asp) Pakistani Riazuddin et al. (2012)

CEP250

(#609,689)

 Centrosomal protein 250 Centrosomal/ciliary protein Atypical USH

Biallellic c.3463C > T p.(Arg1155*);

C2orf71 c.3289C > T p.(Gln1097*)

 Iranian Jewish Kateb et al. (2014)
SNHL with CRD c.361C > T p.(Arg121*);c.562C > T p.(Arg188*) Japanese Kubota et al. (2018)
USH-like c.4006C > T p.(Arg1336*);c.3337A > T p.(Lys1113*) Spanish Fuster-García et al. (2018)

CEP78

(#617,110)

 Centrosomal protein 78 Centrosomal/ciliary protein SNHL with CRD

Biallelic c.893–1 G > A p.(?)

Biallelic c.534delT p.(Leu179Argfs*10)

c.893–1 G > A p.(?);c.534delT p.(Leu179Argfs*10)

Iranian, Iraqi, and

Afghan Jewish

 Namburi et al. (2016)
SNHL with CRD

Biallelic c.499 + 1 G > T p.(?)

c.499 + 5 G > A p.(?);c.633delC p.(Trp212Glyfs*18)

 Greek, Swedish Nikopoulos et al. (2016)
Atypical USH

Biallelic c.1254 + 5 G > A p.(?)

Biallelic c.1629-2A > G p.(?)

 Chinese Fu et al. (2017)
SNHL with CRD Biallelic c.449 T > C p.(Leu150Ser) Belgian Ascari et al. (2020)

ESPN ?

(#606,351)

 Espin Actin-bundling protein

Atypical USH/

USH1M

 Biallelic c2369_2386del p.(Arg790_Arg795del) Pakistani Ahmed et al. (2018)

ARSG

(#610,008)

 Arylsulfatase G Lysosomal sulfatase Atypical USH Biallelic c.133G > T p.(Asp45Tyr) Yemenite Jewish Khateb et al. (2018)
Biallelic c.130G > A p.(Asp44Asn) Spanish Abad-Morales et al. (2020)

Biallelic c.1326del p.(Ser443Alafs*12)

c.253 T > C p.(Ser85Pro);c.338G > A p.(Gly113Asp)

 Portuguese Peter et al. (2020)
Biallelic c.1270C > T p.(Arg424Cys) Persian Fowler et al. (2021)

c.283C > T p.(Arg95Trp);c.566 + 3_566 + 8del p.(?)

c.1004C > T p.(Thr335Met);c.1326del p.(Ser443Alafs*12)

Biallelic c.337G > A p.(Gly113Ser)

 ND Igelman et al. (2021)

c.1212 + 1G > A p.(Val405Ilefs*41);c.275 T > C p.(Leu92Pro)

c.1326del p.(Ser443Alafs*12);c.1024C > T p.(Arg342Trp) in combination with a heterozygous variant in USH2A c.6524G > A p.(Arg2175His)

c.588C > A p.(Tyr196*);c.705-3940_ 982 + 2952del p.(Ser235Argfs*29) in combination with heterozygous variants in ADGRV1 c.5525-7C > T p.(?); MYO7A c.905G > A p.(Arg302His); PCDH15 c.1098 + 2354G > A p.(?)

 Turkish, Caucasian Velde et al. (2022)

PHARC polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract, RP retinitis pigmentosa, SNHL sensorineural hearing loss, CRD cone–rod dystrophy, ND not determined

New variants in AHBD12, CEP250, and CEP78 have been recently reported in the patients presenting with dual hearing and vision loss (see Igelman et al. 2021)