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Autosomal dominant nonsyndromic hearing loss 20(DFNA20)

MedGen UID:
346852
•Concept ID:
C1858172
•
Disease or Syndrome
Synonyms: Deafness, autosomal dominant 20; DFNA20/26 Nonsyndromic Hearing Loss and Deafness
 
Gene (location): ACTG1 (17q25.3)
 
Monarch Initiative: MONDO:0011480
OMIM®: 604717

Definition

Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the ACTG1 gene. [from MONDO]

Clinical features

From HPO
Bilateral sensorineural hearing impairment
MedGen UID:
96788
•Concept ID:
C0452138
•
Disease or Syndrome
A bilateral form of sensorineural hearing impairment.
See: Feature record | Search on this feature
Progressive sensorineural hearing impairment
MedGen UID:
335894
•Concept ID:
C1843156
•
Disease or Syndrome
A progressive form of sensorineural hearing impairment.
See: Feature record | Search on this feature

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  

Professional guidelines

PubMed

COCH-related autosomal dominant nonsyndromic hearing loss: a phenotype-genotype study.
Oh KS, Walls D, Joo SY, Kim JA, Yoo JE, Koh YI, Kim DH, Rim JH, Choi HJ, Kim HY, Yu S, Smith RJ, Choi JY, Gee HY, Jung J
Hum Genet 2022 Apr;141(3-4):889-901. Epub 2021 Sep 16 doi: 10.1007/s00439-021-02368-y. PMID: 34529116Free PMC Article
Whole-exome sequencing identifies a novel genotype-phenotype correlation in the entactin domain of the known deafness gene TECTA.
Choi BY, Kim J, Chung J, Kim AR, Mun SJ, Kang SI, Lee SH, Kim N, Oh SH
PLoS One 2014;9(5):e97040. Epub 2014 May 9 doi: 10.1371/journal.pone.0097040. PMID: 24816743Free PMC Article

Recent clinical studies

Etiology

Prevalence and Clinical Characteristics of Hearing Loss Caused by MYH14 Variants.
Hiramatsu K, Nishio SY, Kitajiri SI, Kitano T, Moteki H, Usami SI, On Behalf Of The Deafness Gene Study Consortium
Genes (Basel) 2021 Oct 15;12(10) doi: 10.3390/genes12101623. PMID: 34681017Free PMC Article
A clinical guidance to DFNA22 drawn from a Korean cohort study with an autosomal dominant deaf population: A retrospective cohort study.
Kim BJ, Han JH, Park HR, Kim MY, Kim AR, Oh SH, Park WY, Oh DY, Lee S, Choi BY
J Gene Med 2018 Jun;20(6):e3019. Epub 2018 Apr 30 doi: 10.1002/jgm.3019. PMID: 29607572
A novel locus for autosomal dominant nonsyndromic hearing loss (DFNA44) maps to chromosome 3q28-29.
Modamio-Høybjør S, Moreno-Pelayo MA, Mencía A, del Castillo I, Chardenoux S, Armenta D, Lathrop M, Petit C, Moreno F
Hum Genet 2003 Jan;112(1):24-8. Epub 2002 Oct 16 doi: 10.1007/s00439-002-0836-x. PMID: 12483295
Presymptomatic diagnosis of nonsyndromic hearing loss by genotyping.
Chen AH, Mueller RF, Prasad SD, Greinwald JH Jr, Manaligod J, Muilenburg AC, Verhoeven K, Van Camp G, Smith RJ
Arch Otolaryngol Head Neck Surg 1998 Jan;124(1):20-4. doi: 10.1001/archotol.124.1.20. PMID: 9440775

Diagnosis

COCH-related autosomal dominant nonsyndromic hearing loss: a phenotype-genotype study.
Oh KS, Walls D, Joo SY, Kim JA, Yoo JE, Koh YI, Kim DH, Rim JH, Choi HJ, Kim HY, Yu S, Smith RJ, Choi JY, Gee HY, Jung J
Hum Genet 2022 Apr;141(3-4):889-901. Epub 2021 Sep 16 doi: 10.1007/s00439-021-02368-y. PMID: 34529116Free PMC Article
Prevalence and Clinical Characteristics of Hearing Loss Caused by MYH14 Variants.
Hiramatsu K, Nishio SY, Kitajiri SI, Kitano T, Moteki H, Usami SI, On Behalf Of The Deafness Gene Study Consortium
Genes (Basel) 2021 Oct 15;12(10) doi: 10.3390/genes12101623. PMID: 34681017Free PMC Article
Single gene variants causing deafness in Asian Indians.
Panigrahi I, Kumari D, Anil Kumar BN
J Genet 2021;100 PMID: 34238775
Genetics of Hearing Loss--Nonsyndromic.
Chang KW
Otolaryngol Clin North Am 2015 Dec;48(6):1063-72. Epub 2015 Aug 11 doi: 10.1016/j.otc.2015.06.005. PMID: 26275501
Presymptomatic diagnosis of nonsyndromic hearing loss by genotyping.
Chen AH, Mueller RF, Prasad SD, Greinwald JH Jr, Manaligod J, Muilenburg AC, Verhoeven K, Van Camp G, Smith RJ
Arch Otolaryngol Head Neck Surg 1998 Jan;124(1):20-4. doi: 10.1001/archotol.124.1.20. PMID: 9440775

Prognosis

Auditory Phenotype of a Novel Missense Variant in the CEACAM16 Gene in a Large Russian Family With Autosomal Dominant Nonsyndromic Hearing Loss.
Markova TG, Alekseeva NN, Ryzhkova OP, Shatokhina OL, Orlova AA, Zabnenkova VV, Groznova OS, Sagaydak OV, Chibisova SS, Polyakov AV, Tavartkiladze GA
J Int Adv Otol 2024 Mar 27;20(2):119-126. doi: 10.5152/iao.2024.231252. PMID: 39157884Free PMC Article
A novel missense mutation in the ACTG1 gene in a family with congenital autosomal dominant deafness: A case report.
Lee CG, Jang J, Jin HS
Mol Med Rep 2018 Jun;17(6):7611-7617. Epub 2018 Mar 29 doi: 10.3892/mmr.2018.8837. PMID: 29620237Free PMC Article
A novel nonsense mutation in MYO6 is associated with progressive nonsyndromic hearing loss in a Danish DFNA22 family.
Sanggaard KM, Kjaer KW, Eiberg H, Nürnberg G, Nürnberg P, Hoffman K, Jensen H, Sørum C, Rendtorff ND, Tranebjaerg L
Am J Med Genet A 2008 Apr 15;146A(8):1017-25. doi: 10.1002/ajmg.a.32174. PMID: 18348273
Identification of novel mutations in the KCNQ4 gene of patients with nonsyndromic deafness from Taiwan.
Su CC, Yang JJ, Shieh JC, Su MC, Li SY
Audiol Neurootol 2007;12(1):20-6. Epub 2006 Oct 10 doi: 10.1159/000096154. PMID: 17033161

Clinical prediction guides

Auditory Phenotype of a Novel Missense Variant in the CEACAM16 Gene in a Large Russian Family With Autosomal Dominant Nonsyndromic Hearing Loss.
Markova TG, Alekseeva NN, Ryzhkova OP, Shatokhina OL, Orlova AA, Zabnenkova VV, Groznova OS, Sagaydak OV, Chibisova SS, Polyakov AV, Tavartkiladze GA
J Int Adv Otol 2024 Mar 27;20(2):119-126. doi: 10.5152/iao.2024.231252. PMID: 39157884Free PMC Article
COCH-related autosomal dominant nonsyndromic hearing loss: a phenotype-genotype study.
Oh KS, Walls D, Joo SY, Kim JA, Yoo JE, Koh YI, Kim DH, Rim JH, Choi HJ, Kim HY, Yu S, Smith RJ, Choi JY, Gee HY, Jung J
Hum Genet 2022 Apr;141(3-4):889-901. Epub 2021 Sep 16 doi: 10.1007/s00439-021-02368-y. PMID: 34529116Free PMC Article
A clinical guidance to DFNA22 drawn from a Korean cohort study with an autosomal dominant deaf population: A retrospective cohort study.
Kim BJ, Han JH, Park HR, Kim MY, Kim AR, Oh SH, Park WY, Oh DY, Lee S, Choi BY
J Gene Med 2018 Jun;20(6):e3019. Epub 2018 Apr 30 doi: 10.1002/jgm.3019. PMID: 29607572
DFNA8/12 caused by TECTA mutations is the most identified subtype of nonsyndromic autosomal dominant hearing loss.
Hildebrand MS, Morín M, Meyer NC, Mayo F, Modamio-Hoybjor S, Mencía A, Olavarrieta L, Morales-Angulo C, Nishimura CJ, Workman H, DeLuca AP, del Castillo I, Taylor KR, Tompkins B, Goodman CW, Schrauwen I, Wesemael MV, Lachlan K, Shearer AE, Braun TA, Huygen PL, Kremer H, Van Camp G, Moreno F, Casavant TL, Smith RJ, Moreno-Pelayo MA
Hum Mutat 2011 Jul;32(7):825-34. Epub 2011 Jun 7 doi: 10.1002/humu.21512. PMID: 21520338Free PMC Article
A novel locus for autosomal dominant nonsyndromic hearing loss (DFNA44) maps to chromosome 3q28-29.
Modamio-Høybjør S, Moreno-Pelayo MA, Mencía A, del Castillo I, Chardenoux S, Armenta D, Lathrop M, Petit C, Moreno F
Hum Genet 2003 Jan;112(1):24-8. Epub 2002 Oct 16 doi: 10.1007/s00439-002-0836-x. PMID: 12483295

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