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Autosomal recessive nonsyndromic hearing loss 71(DFNB71)

MedGen UID:
411609
•Concept ID:
C2748554
•
Disease or Syndrome
Synonym: Deafness, autosomal recessive 71
 
Monarch Initiative: MONDO:0013010
OMIM®: 612789

Definition

An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 8p22-p21.3. [from MONDO]

Clinical features

From HPO
Prelingual sensorineural hearing impairment
MedGen UID:
867432
•Concept ID:
C4021806
•
Disease or Syndrome
A form of sensorineural deafness with either congenital onset or infantile onset, i.e., before the acquisition of speech.
See: Feature record | Search on this feature

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  

Recent clinical studies

Etiology

Variations in the Mutational Spectrum in Nonsyndromic Hearing Impairment: A study of the Special Schools for the Deaf in Southern China.
Lin Y, Yu F, Jiao Y, Zhou F
J Int Adv Otol 2019 Aug;15(2):247-252. doi: 10.5152/iao.2019.6512. PMID: 31347505Free PMC Article

Diagnosis

Carrier frequencies of mutations/polymorphisms in the connexin 26 gene (GJB2) in the Moroccan population.
Abidi O, Boulouiz R, Nahili H, Bakhouch K, Wakrim L, Rouba H, Chafik A, Hassar M, Barakat A
Genet Test 2008 Dec;12(4):569-74. doi: 10.1089/gte.2008.0063. PMID: 19072567

Clinical prediction guides

Variations in the Mutational Spectrum in Nonsyndromic Hearing Impairment: A study of the Special Schools for the Deaf in Southern China.
Lin Y, Yu F, Jiao Y, Zhou F
J Int Adv Otol 2019 Aug;15(2):247-252. doi: 10.5152/iao.2019.6512. PMID: 31347505Free PMC Article
Identification of a novel splice site variant of OTOF in the Korean nonsyndromic hearing loss population with low prevalence of the OTOF mutations.
Jin YJ, Park J, Kim AR, Rah YC, Choi BY
Int J Pediatr Otorhinolaryngol 2014 Jul;78(7):1030-5. Epub 2014 Apr 24 doi: 10.1016/j.ijporl.2014.03.033. PMID: 24814232
Carrier frequencies of mutations/polymorphisms in the connexin 26 gene (GJB2) in the Moroccan population.
Abidi O, Boulouiz R, Nahili H, Bakhouch K, Wakrim L, Rouba H, Chafik A, Hassar M, Barakat A
Genet Test 2008 Dec;12(4):569-74. doi: 10.1089/gte.2008.0063. PMID: 19072567
The autosomal recessive nonsyndromic deafness locus DFNB72 is located on chromosome 19p13.3.
Ain Q, Nazli S, Riazuddin S, Jaleel AU, Riazuddin SA, Zafar AU, Khan SN, Husnain T, Griffith AJ, Ahmed ZM, Friedman TB, Riazuddin S
Hum Genet 2007 Dec;122(5):445-50. Epub 2007 Aug 10 doi: 10.1007/s00439-007-0418-z. PMID: 17690910

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