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Autosomal recessive nonsyndromic hearing loss 51(DFNB51)

MedGen UID:
355880
•Concept ID:
C1864968
•
Disease or Syndrome
Synonyms: Autosomal recessive nonsyndromic deafness 51; Deafness, autosomal recessive 51
 
Monarch Initiative: MONDO:0012370
OMIM®: 609941

Definition

An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 11p13-p12. [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

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

Diagnosis

Mutation Analysis Using Multiplex Ligation-Dependent Probe Amplification in Consanguineous Families in South India with a Child with Profound Hearing Impairment.
Arunachalam RK, Koshy T, Venkatesan V, Dawson GP, Franklin Durairaj Paul S, George P
Lab Med 2020 Jan 2;51(1):56-65. doi: 10.1093/labmed/lmz027. PMID: 31150550
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
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

Prognosis

Clinical characteristics of a Japanese family with hearing loss accompanied by compound heterozygous mutations in LOXHD1.
Minami SB, Mutai H, Namba K, Sakamoto H, Matsunaga T
Auris Nasus Larynx 2016 Dec;43(6):609-13. Epub 2016 Mar 10 doi: 10.1016/j.anl.2016.02.010. PMID: 26973026
Targeted knockout and lacZ reporter expression of the mouse Tmhs deafness gene and characterization of the hscy-2J mutation.
Longo-Guess CM, Gagnon LH, Fritzsch B, Johnson KR
Mamm Genome 2007 Sep;18(9):646-56. Epub 2007 Sep 18 doi: 10.1007/s00335-007-9049-x. PMID: 17876667Free PMC Article

Clinical prediction guides

Clinical characteristics of a Japanese family with hearing loss accompanied by compound heterozygous mutations in LOXHD1.
Minami SB, Mutai H, Namba K, Sakamoto H, Matsunaga T
Auris Nasus Larynx 2016 Dec;43(6):609-13. Epub 2016 Mar 10 doi: 10.1016/j.anl.2016.02.010. PMID: 26973026
Vestibular dysfunction in DFNB1 deafness.
Dodson KM, Blanton SH, Welch KO, Norris VW, Nuzzo RL, Wegelin JA, Marin RS, Nance WE, Pandya A, Arnos KS
Am J Med Genet A 2011 May;155A(5):993-1000. Epub 2011 Apr 4 doi: 10.1002/ajmg.a.33828. PMID: 21465647Free PMC Article
Targeted knockout and lacZ reporter expression of the mouse Tmhs deafness gene and characterization of the hscy-2J mutation.
Longo-Guess CM, Gagnon LH, Fritzsch B, Johnson KR
Mamm Genome 2007 Sep;18(9):646-56. Epub 2007 Sep 18 doi: 10.1007/s00335-007-9049-x. PMID: 17876667Free PMC Article

Supplemental Content

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