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Autosomal recessive nonsyndromic hearing loss 91(DFNB91)

MedGen UID:
462054
•Concept ID:
C3150704
•
Disease or Syndrome
Synonym: Deafness, autosomal recessive 91
 
Gene (location): SERPINB6 (6p25.2)
 
Monarch Initiative: MONDO:0013269
OMIM®: 613453

Definition

Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the SERPINB6 gene. [from MONDO]

Clinical features

From HPO
Progressive hearing impairment
MedGen UID:
331224
•Concept ID:
C1842138
•
Finding
A progressive form of hearing impairment.
See: Feature record | Search on this feature

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  

Recent clinical studies

Etiology

A quantitative cSMART assay for noninvasive prenatal screening of autosomal recessive nonsyndromic hearing loss caused by GJB2 and SLC26A4 mutations.
Han M, Li Z, Wang W, Huang S, Lu Y, Gao Z, Wang L, Kang D, Li L, Liu Y, Xu M, Cram DS, Dai P
Genet Med 2017 Dec;19(12):1309-1316. Epub 2017 May 25 doi: 10.1038/gim.2017.54. PMID: 28541280

Diagnosis

A quantitative cSMART assay for noninvasive prenatal screening of autosomal recessive nonsyndromic hearing loss caused by GJB2 and SLC26A4 mutations.
Han M, Li Z, Wang W, Huang S, Lu Y, Gao Z, Wang L, Kang D, Li L, Liu Y, Xu M, Cram DS, Dai P
Genet Med 2017 Dec;19(12):1309-1316. Epub 2017 May 25 doi: 10.1038/gim.2017.54. PMID: 28541280

Supplemental Content

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