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Autosomal recessive nonsyndromic hearing loss 31(DFNB31)

MedGen UID:
339621
•Concept ID:
C1846839
•
Disease or Syndrome
Synonyms: Deafness, autosomal recessive 31; DFNB31 Nonsyndromic Hearing Loss and Deafness; WHIRLER, MOUSE, HOMOLOG OF
 
Gene (location): WHRN (9q32)
 
Monarch Initiative: MONDO:0011767
OMIM®: 607084

Definition

Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the WHRN 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
Absent vestibular function
MedGen UID:
870219
•Concept ID:
C4024656
•
Finding
Complete lack of functioning of the vestibular apparatus.
See: Feature record | Search on this feature

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  

Recent clinical studies

Etiology

Comprehensive analysis via exome sequencing uncovers genetic etiology in autosomal recessive nonsyndromic deafness in a large multiethnic cohort.
Bademci G, Foster J 2nd, Mahdieh N, Bonyadi M, Duman D, Cengiz FB, Menendez I, Diaz-Horta O, Shirkavand A, Zeinali S, Subasioglu A, Tokgoz-Yilmaz S, Huesca-Hernandez F, de la Luz Arenas-Sordo M, Dominguez-Aburto J, Hernandez-Zamora E, Montenegro P, Paredes R, Moreta G, Vinueza R, Villegas F, Mendoza-Benitez S, Guo S, Bozan N, Tos T, Incesulu A, Sennaroglu G, Blanton SH, Ozturkmen-Akay H, Yildirim-Baylan M, Tekin M
Genet Med 2016 Apr;18(4):364-71. Epub 2015 Jul 30 doi: 10.1038/gim.2015.89. PMID: 26226137Free PMC Article
Strong founder effect of p.P240L in CDH23 in Koreans and its significant contribution to severe-to-profound nonsyndromic hearing loss in a Korean pediatric population.
Kim SY, Kim AR, Kim NK, Kim MY, Jeon EH, Kim BJ, Han YE, Chang MY, Park WY, Choi BY
J Transl Med 2015 Aug 13;13:263. doi: 10.1186/s12967-015-0624-8. PMID: 26264712Free PMC Article
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
Autosomal recessive and sporadic deafness in Morocco: high frequency of the 35delG GJB2 mutation and absence of the 342-kb GJB6 variant.
Gazzaz B, Weil D, Raïs L, Akhyat O, Azeddoug H, Nadifi S
Hear Res 2005 Dec;210(1-2):80-4. Epub 2005 Oct 21 doi: 10.1016/j.heares.2005.08.001. PMID: 16243461
Nonsyndromic hearing loss: an analysis of audiograms.
Liu X, Xu L
Ann Otol Rhinol Laryngol 1994 Jun;103(6):428-33. doi: 10.1177/000348949410300602. PMID: 8203808

Diagnosis

Novel pathogenic mutations and further evidence for clinical relevance of genes and variants causing hearing impairment in Tunisian population.
Souissi A, Ben Said M, Ben Ayed I, Elloumi I, Bouzid A, Mosrati MA, Hasnaoui M, Belcadhi M, Idriss N, Kamoun H, Gharbi N, Gibriel AA, Tlili A, Masmoudi S
J Adv Res 2021 Jul;31:13-24. Epub 2021 Jan 12 doi: 10.1016/j.jare.2021.01.005. PMID: 34194829Free PMC Article
DNA Diagnostics of Hereditary Hearing Loss: A Targeted Resequencing Approach Combined with a Mutation Classification System.
Sommen M, Schrauwen I, Vandeweyer G, Boeckx N, Corneveaux JJ, van den Ende J, Boudewyns A, De Leenheer E, Janssens S, Claes K, Verstreken M, Strenzke N, Predöhl F, Wuyts W, Mortier G, Bitner-Glindzicz M, Moser T, Coucke P, Huentelman MJ, Van Camp G
Hum Mutat 2016 Aug;37(8):812-9. Epub 2016 May 6 doi: 10.1002/humu.22999. PMID: 27068579
Comprehensive analysis via exome sequencing uncovers genetic etiology in autosomal recessive nonsyndromic deafness in a large multiethnic cohort.
Bademci G, Foster J 2nd, Mahdieh N, Bonyadi M, Duman D, Cengiz FB, Menendez I, Diaz-Horta O, Shirkavand A, Zeinali S, Subasioglu A, Tokgoz-Yilmaz S, Huesca-Hernandez F, de la Luz Arenas-Sordo M, Dominguez-Aburto J, Hernandez-Zamora E, Montenegro P, Paredes R, Moreta G, Vinueza R, Villegas F, Mendoza-Benitez S, Guo S, Bozan N, Tos T, Incesulu A, Sennaroglu G, Blanton SH, Ozturkmen-Akay H, Yildirim-Baylan M, Tekin M
Genet Med 2016 Apr;18(4):364-71. Epub 2015 Jul 30 doi: 10.1038/gim.2015.89. PMID: 26226137Free PMC Article
Autosomal recessive and sporadic deafness in Morocco: high frequency of the 35delG GJB2 mutation and absence of the 342-kb GJB6 variant.
Gazzaz B, Weil D, Raïs L, Akhyat O, Azeddoug H, Nadifi S
Hear Res 2005 Dec;210(1-2):80-4. Epub 2005 Oct 21 doi: 10.1016/j.heares.2005.08.001. PMID: 16243461
Nonsyndromic hearing loss: an analysis of audiograms.
Liu X, Xu L
Ann Otol Rhinol Laryngol 1994 Jun;103(6):428-33. doi: 10.1177/000348949410300602. PMID: 8203808

Prognosis

DFNB66 and DFNB67 loci are non allelic and rarely contribute to autosomal recessive nonsyndromic hearing loss.
Bensaïd M, Hmani-Aifa M, Hammami B, Tlili A, Hakim B, Charfeddine I, Ayadi H, Ghorbel A, Castillo ID, Masmoudi S
Eur J Med Genet 2011 Nov-Dec;54(6):e565-9. Epub 2011 Jul 26 doi: 10.1016/j.ejmg.2011.07.003. PMID: 21816241
Sequence variants of the DFNB31 gene among Usher syndrome patients of diverse origin.
Aller E, Jaijo T, van Wijk E, Ebermann I, Kersten F, García-García G, Voesenek K, Aparisi MJ, Hoefsloot L, Cremers C, Díaz-Llopis M, Pennings R, Bolz HJ, Kremer H, Millán JM
Mol Vis 2010 Mar 23;16:495-500. PMID: 20352026Free PMC Article

Clinical prediction guides

DFNB66 and DFNB67 loci are non allelic and rarely contribute to autosomal recessive nonsyndromic hearing loss.
Bensaïd M, Hmani-Aifa M, Hammami B, Tlili A, Hakim B, Charfeddine I, Ayadi H, Ghorbel A, Castillo ID, Masmoudi S
Eur J Med Genet 2011 Nov-Dec;54(6):e565-9. Epub 2011 Jul 26 doi: 10.1016/j.ejmg.2011.07.003. PMID: 21816241
Sequence variants of the DFNB31 gene among Usher syndrome patients of diverse origin.
Aller E, Jaijo T, van Wijk E, Ebermann I, Kersten F, García-García G, Voesenek K, Aparisi MJ, Hoefsloot L, Cremers C, Díaz-Llopis M, Pennings R, Bolz HJ, Kremer H, Millán JM
Mol Vis 2010 Mar 23;16:495-500. PMID: 20352026Free PMC Article
Four novel TMC1 (DFNB7/DFNB11) mutations in Turkish patients with congenital autosomal recessive nonsyndromic hearing loss.
Kalay E, Karaguzel A, Caylan R, Heister A, Cremers FP, Cremers CW, Brunner HG, de Brouwer AP, Kremer H
Hum Mutat 2005 Dec;26(6):591. doi: 10.1002/humu.9384. PMID: 16287143
Mapping of a novel autosomal recessive nonsyndromic deafness locus (DFNB46) to chromosome 18p11.32-p11.31.
Mir A, Ansar M, Chahrour MH, Pham TL, Wajid M, Haque S, Yan K, Ahmad W, Leal SM
Am J Med Genet A 2005 Feb 15;133A(1):23-6. doi: 10.1002/ajmg.a.30516. PMID: 15637723Free PMC Article

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