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Autosomal dominant nonsyndromic hearing loss 40(DFNA40)

MedGen UID:
896665
•Concept ID:
C4084708
•
Disease or Syndrome
Synonym: Deafness, autosomal dominant 40
 
Gene (location): CRYM (16p12.2)
 
Monarch Initiative: MONDO:0014603
OMIM®: 616357

Definition

Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the CRYM 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
Abnormal vestibular function
MedGen UID:
334848
•Concept ID:
C1843865
•
Finding
An abnormality of the functioning of the vestibular apparatus.
See: Feature record | Search on this feature
Intellectual disability
MedGen UID:
811461
•Concept ID:
C3714756
•
Mental or Behavioral Dysfunction
Intellectual disability, previously referred to as mental retardation, is characterized by subnormal intellectual functioning that occurs during the developmental period. It is defined by an IQ score below 70.
See: Feature record | Search on this feature
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Professional guidelines

PubMed

Comprehensive genetic screening of KCNQ4 in a large autosomal dominant nonsyndromic hearing loss cohort: genotype-phenotype correlations and a founder mutation.
Naito T, Nishio SY, Iwasa Y, Yano T, Kumakawa K, Abe S, Ishikawa K, Kojima H, Namba A, Oshikawa C, Usami S
PLoS One 2013;8(5):e63231. Epub 2013 May 23 doi: 10.1371/journal.pone.0063231. PMID: 23717403Free PMC Article

Recent clinical studies

Etiology

Comprehensive genetic screening of KCNQ4 in a large autosomal dominant nonsyndromic hearing loss cohort: genotype-phenotype correlations and a founder mutation.
Naito T, Nishio SY, Iwasa Y, Yano T, Kumakawa K, Abe S, Ishikawa K, Kojima H, Namba A, Oshikawa C, Usami S
PLoS One 2013;8(5):e63231. Epub 2013 May 23 doi: 10.1371/journal.pone.0063231. PMID: 23717403Free PMC Article

Diagnosis

Single gene variants causing deafness in Asian Indians.
Panigrahi I, Kumari D, Anil Kumar BN
J Genet 2021;100 PMID: 34238775
Improving the Management of Patients with Hearing Loss by the Implementation of an NGS Panel in Clinical Practice.
García-García G, Berzal-Serrano A, García-Díaz P, Villanova-Aparisi R, Juárez-Rodríguez S, de Paula-Vernetta C, Cavallé-Garrido L, Jaijo T, Armengot-Carceller M, Millán JM, Aller E
Genes (Basel) 2020 Dec 7;11(12) doi: 10.3390/genes11121467. PMID: 33297549Free PMC Article
Mutations in PLS1, encoding fimbrin, cause autosomal dominant nonsyndromic hearing loss.
Morgan A, Koboldt DC, Barrie ES, Crist ER, García García G, Mezzavilla M, Faletra F, Mihalic Mosher T, Wilson RK, Blanchet C, Manickam K, Roux AF, Gasparini P, Dell'Orco D, Girotto G
Hum Mutat 2019 Dec;40(12):2286-2295. Epub 2019 Oct 1 doi: 10.1002/humu.23891. PMID: 31397523
Comprehensive genetic screening of KCNQ4 in a large autosomal dominant nonsyndromic hearing loss cohort: genotype-phenotype correlations and a founder mutation.
Naito T, Nishio SY, Iwasa Y, Yano T, Kumakawa K, Abe S, Ishikawa K, Kojima H, Namba A, Oshikawa C, Usami S
PLoS One 2013;8(5):e63231. Epub 2013 May 23 doi: 10.1371/journal.pone.0063231. PMID: 23717403Free 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

Therapy

Improving the Management of Patients with Hearing Loss by the Implementation of an NGS Panel in Clinical Practice.
García-García G, Berzal-Serrano A, García-Díaz P, Villanova-Aparisi R, Juárez-Rodríguez S, de Paula-Vernetta C, Cavallé-Garrido L, Jaijo T, Armengot-Carceller M, Millán JM, Aller E
Genes (Basel) 2020 Dec 7;11(12) doi: 10.3390/genes11121467. PMID: 33297549Free PMC Article

Prognosis

A Missense POU4F3 Variant Associated with Autosomal Dominant Midfrequency Hearing Loss Alters Subnuclear Localization and Transcriptional Capabilities.
Bai D, Zhang X, Li Y, Ni J, Lan K
Biomed Res Int 2021;2021:5574136. Epub 2021 Jun 21 doi: 10.1155/2021/5574136. PMID: 34250087Free PMC Article
A Novel Heterozygous Missense Variant (c.667G>T;p.Gly223Cys) in USH1C That Interferes With Cadherin-Related 23 and Harmonin Interaction Causes Autosomal Dominant Nonsyndromic Hearing Loss.
Song JS, Bahloul A, Petit C, Kim SJ, Moon IJ, Lee J, Ki CS
Ann Lab Med 2020 May;40(3):224-231. doi: 10.3343/alm.2020.40.3.224. PMID: 31858762Free PMC Article
Mutations in the gamma-actin gene (ACTG1) are associated with dominant progressive deafness (DFNA20/26).
Zhu M, Yang T, Wei S, DeWan AT, Morell RJ, Elfenbein JL, Fisher RA, Leal SM, Smith RJ, Friderici KH
Am J Hum Genet 2003 Nov;73(5):1082-91. Epub 2003 Sep 16 doi: 10.1086/379286. PMID: 13680526Free PMC Article

Clinical prediction guides

A Missense POU4F3 Variant Associated with Autosomal Dominant Midfrequency Hearing Loss Alters Subnuclear Localization and Transcriptional Capabilities.
Bai D, Zhang X, Li Y, Ni J, Lan K
Biomed Res Int 2021;2021:5574136. Epub 2021 Jun 21 doi: 10.1155/2021/5574136. PMID: 34250087Free PMC Article
A Novel Heterozygous Missense Variant (c.667G>T;p.Gly223Cys) in USH1C That Interferes With Cadherin-Related 23 and Harmonin Interaction Causes Autosomal Dominant Nonsyndromic Hearing Loss.
Song JS, Bahloul A, Petit C, Kim SJ, Moon IJ, Lee J, Ki CS
Ann Lab Med 2020 May;40(3):224-231. doi: 10.3343/alm.2020.40.3.224. PMID: 31858762Free PMC Article
Comprehensive genetic screening of KCNQ4 in a large autosomal dominant nonsyndromic hearing loss cohort: genotype-phenotype correlations and a founder mutation.
Naito T, Nishio SY, Iwasa Y, Yano T, Kumakawa K, Abe S, Ishikawa K, Kojima H, Namba A, Oshikawa C, Usami S
PLoS One 2013;8(5):e63231. Epub 2013 May 23 doi: 10.1371/journal.pone.0063231. PMID: 23717403Free PMC Article
Mutations in the gamma-actin gene (ACTG1) are associated with dominant progressive deafness (DFNA20/26).
Zhu M, Yang T, Wei S, DeWan AT, Morell RJ, Elfenbein JL, Fisher RA, Leal SM, Smith RJ, Friderici KH
Am J Hum Genet 2003 Nov;73(5):1082-91. Epub 2003 Sep 16 doi: 10.1086/379286. PMID: 13680526Free PMC Article

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    • ClinVar
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    • GTR
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      Clinical tests in GTR
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      OMIM records containing genes associated with phenotypes registered in MedGen
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