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Autosomal dominant nonsyndromic hearing loss 10(DFNA10)

MedGen UID:
321966
•Concept ID:
C1832476
•
Disease or Syndrome
Synonyms: Deafness, autosomal dominant 10; DFNA10 Nonsyndromic Hearing Loss and Deafness
 
Gene (location): EYA4 (6q23.2)
 
Monarch Initiative: MONDO:0011031
OMIM®: 601316

Definition

Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the EYA4 gene. [from MONDO]

Clinical features

From HPO
Sensorineural hearing loss disorder
MedGen UID:
9164
•Concept ID:
C0018784
•
Disease or Syndrome
A type of hearing impairment in one or both ears related to an abnormal functionality of the cochlear nerve.
See: Feature record | Search on this feature

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  

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
WFS1 and GJB2 mutations in patients with bilateral low-frequency sensorineural hearing loss.
Kasakura-Kimura N, Masuda M, Mutai H, Masuda S, Morimoto N, Ogahara N, Misawa H, Sakamoto H, Saito K, Matsunaga T
Laryngoscope 2017 Sep;127(9):E324-E329. Epub 2017 Mar 8 doi: 10.1002/lary.26528. PMID: 28271504
Hair phenotype in non-syndromic deafness.
Volo T, Sathiyaseelan T, Astolfi L, Guaran V, Trevisi P, Emanuelli E, Martini A
Int J Pediatr Otorhinolaryngol 2013 Aug;77(8):1280-5. Epub 2013 Jun 14 doi: 10.1016/j.ijporl.2013.05.010. PMID: 23751281
GJB2 (Cx26) gene mutations in Chinese patients with congenital sensorineural deafness and a report of one novel mutation.
Xiao ZA, Xie DH
Chin Med J (Engl) 2004 Dec;117(12):1797-801. PMID: 15603707

Diagnosis

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 novel mutation of the EYA4 gene associated with post-lingual hearing loss in a proband is co-segregating with a novel PAX3 mutation in two congenitally deaf family members.
Cesca F, Bettella E, Polli R, Cama E, Scimemi P, Santarelli R, Murgia A
Int J Pediatr Otorhinolaryngol 2018 Jan;104:88-93. Epub 2017 Oct 31 doi: 10.1016/j.ijporl.2017.10.042. PMID: 29287889
Whole Exome Sequencing Identified MCM2 as a Novel Causative Gene for Autosomal Dominant Nonsyndromic Deafness in a Chinese Family.
Gao J, Wang Q, Dong C, Chen S, Qi Y, Liu Y
PLoS One 2015;10(7):e0133522. Epub 2015 Jul 21 doi: 10.1371/journal.pone.0133522. PMID: 26196677Free PMC Article
De novo dominant mutation of GJB2 in two Chinese families with nonsyndromic hearing loss.
Huang S, Yuan Y, Liu J, Han D, Kang D, Zhang X, Dong M, Yan X, Dai P
Int J Pediatr Otorhinolaryngol 2011 Oct;75(10):1333-6. Epub 2011 Aug 24 doi: 10.1016/j.ijporl.2011.07.033. PMID: 21868108
Novel mutations in the connexin 26 gene (GJB2) that cause autosomal recessive (DFNB1) hearing loss.
Kelley PM, Harris DJ, Comer BC, Askew JW, Fowler T, Smith SD, Kimberling WJ
Am J Hum Genet 1998 Apr;62(4):792-9. doi: 10.1086/301807. PMID: 9529365Free PMC Article

Prognosis

Identification of homozygous mutations for hearing loss.
Dianatpour M, Smith E, Hashemi SB, Farazifard MA, Nezafat N, Razban V, Mani A
Gene 2021 Apr 30;778:145464. Epub 2021 Jan 29 doi: 10.1016/j.gene.2021.145464. PMID: 33524517Free PMC Article
A novel mutation of the EYA4 gene associated with post-lingual hearing loss in a proband is co-segregating with a novel PAX3 mutation in two congenitally deaf family members.
Cesca F, Bettella E, Polli R, Cama E, Scimemi P, Santarelli R, Murgia A
Int J Pediatr Otorhinolaryngol 2018 Jan;104:88-93. Epub 2017 Oct 31 doi: 10.1016/j.ijporl.2017.10.042. PMID: 29287889

Clinical prediction guides

Identification of homozygous mutations for hearing loss.
Dianatpour M, Smith E, Hashemi SB, Farazifard MA, Nezafat N, Razban V, Mani A
Gene 2021 Apr 30;778:145464. Epub 2021 Jan 29 doi: 10.1016/j.gene.2021.145464. PMID: 33524517Free PMC Article
A novel mutation of the EYA4 gene associated with post-lingual hearing loss in a proband is co-segregating with a novel PAX3 mutation in two congenitally deaf family members.
Cesca F, Bettella E, Polli R, Cama E, Scimemi P, Santarelli R, Murgia A
Int J Pediatr Otorhinolaryngol 2018 Jan;104:88-93. Epub 2017 Oct 31 doi: 10.1016/j.ijporl.2017.10.042. PMID: 29287889
A novel locus (DFNA23) for prelingual autosomal dominant nonsyndromic hearing loss maps to 14q21-q22 in a Swiss German kindred.
Salam AA, Häfner FM, Linder TE, Spillmann T, Schinzel AA, Leal SM
Am J Hum Genet 2000 Jun;66(6):1984-8. Epub 2000 Apr 24 doi: 10.1086/302931. PMID: 10777717Free PMC Article
Novel mutations in the connexin 26 gene (GJB2) that cause autosomal recessive (DFNB1) hearing loss.
Kelley PM, Harris DJ, Comer BC, Askew JW, Fowler T, Smith SD, Kimberling WJ
Am J Hum Genet 1998 Apr;62(4):792-9. doi: 10.1086/301807. PMID: 9529365Free PMC Article

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