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Autosomal recessive nonsyndromic hearing loss 79(DFNB79)

MedGen UID:
413222
Concept ID:
C2750082
Disease or Syndrome
Synonyms: Deafness, autosomal recessive 79; DFNB79 Nonsyndromic Hearing Loss and Deafness
 
Gene (location): TPRN (9q34.3)
 
Monarch Initiative: MONDO:0013215
OMIM®: 613307

Definition

Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the TPRN 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.
Progressive sensorineural hearing impairment
MedGen UID:
335894
Concept ID:
C1843156
Disease or Syndrome
A progressive form of sensorineural hearing impairment.
Delayed speech and language development
MedGen UID:
105318
Concept ID:
C0454644
Finding
A degree of language development that is significantly below the norm for a child of a specified age.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  

Recent clinical studies

Diagnosis

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

Prognosis

Lim HD, Lee SM, Yun YJ, Lee DH, Lee JH, Oh SH, Lee SY
BMC Med Genomics 2023 Apr 11;16(1):79. doi: 10.1186/s12920-023-01506-x. PMID: 37041640Free PMC Article

Clinical prediction guides

Lim HD, Lee SM, Yun YJ, Lee DH, Lee JH, Oh SH, Lee SY
BMC Med Genomics 2023 Apr 11;16(1):79. doi: 10.1186/s12920-023-01506-x. PMID: 37041640Free PMC Article
Wang J, Shen J, Guo L, Cheng C, Chai R, Shu Y, Li H
Hear Res 2019 Aug;379:79-88. Epub 2019 Apr 26 doi: 10.1016/j.heares.2019.04.014. PMID: 31103816

Recent systematic reviews

Lim HD, Lee SM, Yun YJ, Lee DH, Lee JH, Oh SH, Lee SY
BMC Med Genomics 2023 Apr 11;16(1):79. doi: 10.1186/s12920-023-01506-x. PMID: 37041640Free PMC Article

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