Autosomal recessive nonsyndromic hearing loss 59(DFNB59)

MedGen UID:: 387899
•Concept ID:: C1857744
•: Disease or Syndrome

Synonyms:	Deafness, autosomal recessive 59; DFNB59 Nonsyndromic Hearing Loss and Deafness

Gene (location): Gene(s) directly associated with this condition or phenotype.	PJVK (2q31.2)

Monarch Initiative:	MONDO:0012445
OMIM®:	610220

Definition

Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the PJVK 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

Ear malformation
- Sensorineural hearing loss disorder

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVHereditary hearing loss and deafness

Hereditary hearing loss and deafness
- Nonsyndromic genetic hearing loss
  - Nonsyndromic Hearing Loss and Deafness, Autosomal Recessive
    - Autosomal recessive nonsyndromic hearing loss 59

Recent clinical studies

Etiology

Comprehensive Molecular Screening in Chinese Usher Syndrome Patients.

Sun T, Xu K, Ren Y, Xie Y, Zhang X, Tian L, Li Y
Invest Ophthalmol Vis Sci 2018 Mar 1;59(3):1229-1237. doi: 10.1167/iovs.17-23312. PMID: 29625443

Genotypic and phenotypic correlations of DFNB1-related hearing impairment in the Midwestern United States.

Lim LH, Bradshaw JK, Guo Y, Pilipenko V, Madden C, Ingala D, Keddache M, Choo DI, Wenstrup R, Greinwald JH Jr
Arch Otolaryngol Head Neck Surg 2003 Aug;129(8):836-40. doi: 10.1001/archotol.129.8.836. PMID: 12925341

See all (2)

Diagnosis

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: 33297549 Free PMC Article

Comprehensive Molecular Screening in Chinese Usher Syndrome Patients.

Sun T, Xu K, Ren Y, Xie Y, Zhang X, Tian L, Li Y
Invest Ophthalmol Vis Sci 2018 Mar 1;59(3):1229-1237. doi: 10.1167/iovs.17-23312. PMID: 29625443

Update of the spectrum of GJB2 gene mutations in 152 Moroccan families with autosomal recessive nonsyndromic hearing loss.

Bakhchane A, Bousfiha A, Charoute H, Salime S, Detsouli M, Snoussi K, Nadifi S, Kabine M, Rouba H, Dehbi H, Roky R, Charif M, Barakat A
Eur J Med Genet 2016 Jun;59(6-7):325-9. Epub 2016 May 8 doi: 10.1016/j.ejmg.2016.05.002. PMID: 27169813

KCNJ10 may not be a contributor to nonsyndromic enlargement of vestibular aqueduct (NSEVA) in Chinese subjects.

Zhao J, Yuan Y, Huang S, Huang B, Cheng J, Kang D, Wang G, Han D, Dai P
PLoS One 2014;9(11):e108134. Epub 2014 Nov 5 doi: 10.1371/journal.pone.0108134. PMID: 25372295 Free PMC Article

Mitochondrial disorders.

Zeviani M, Tiranti V, Piantadosi C
Medicine (Baltimore) 1998 Jan;77(1):59-72. doi: 10.1097/00005792-199801000-00006. PMID: 9465864

See all (6)