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X-linked nonsyndromic hearing loss

MedGen UID:
1825990
•Concept ID:
C5680192
•
Disease or Syndrome
Synonyms: Nonsyndromic Hearing Loss and Deafness, X-Linked; Rare X-linked non-syndromic sensorineural deafness type DFN; X-linked nonsyndromic deafness
Modes of inheritance:
X-linked recessive inheritance
MedGen UID:
375779
•Concept ID:
C1845977
•
Finding
Source: Orphanet
A mode of inheritance that is observed for recessive traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked recessive disorders manifest in males (who have one copy of the X chromosome and are thus hemizygotes), but generally not in female heterozygotes who have one mutant and one normal allele.
See: This record
X-linked recessive inheritance (Orphanet)
 
Monarch Initiative: MONDO:0019586
Orphanet: ORPHA90625

Definition

X-linked form of nonsyndromic deafness. [from MONDO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVX-linked nonsyndromic hearing loss

Professional guidelines

PubMed

Identification of a novel mutation in POU3F4 for prenatal diagnosis in a Chinese family with X-linked nonsyndromic hearing loss.
Li J, Cheng J, Lu Y, Lu Y, Chen A, Sun Y, Kang D, Zhang X, Dai P, Han D, Yuan H
J Genet Genomics 2010 Dec;37(12):787-93. doi: 10.1016/S1673-8527(09)60096-5. PMID: 21193157

Recent clinical studies

Etiology

Identification of a novel mutation in POU3F4 for prenatal diagnosis in a Chinese family with X-linked nonsyndromic hearing loss.
Li J, Cheng J, Lu Y, Lu Y, Chen A, Sun Y, Kang D, Zhang X, Dai P, Han D, Yuan H
J Genet Genomics 2010 Dec;37(12):787-93. doi: 10.1016/S1673-8527(09)60096-5. PMID: 21193157

Diagnosis

Identification of a novel mutation in POU3F4 for prenatal diagnosis in a Chinese family with X-linked nonsyndromic hearing loss.
Li J, Cheng J, Lu Y, Lu Y, Chen A, Sun Y, Kang D, Zhang X, Dai P, Han D, Yuan H
J Genet Genomics 2010 Dec;37(12):787-93. doi: 10.1016/S1673-8527(09)60096-5. PMID: 21193157

Prognosis

A novel frameshift mutation of SMPX causes a rare form of X-linked nonsyndromic hearing loss in a Chinese family.
Niu Z, Feng Y, Mei L, Sun J, Wang X, Wang J, Hu Z, Dong Y, Chen H, He C, Liu Y, Cai X, Liu X, Jiang L
PLoS One 2017;12(5):e0178384. Epub 2017 May 25 doi: 10.1371/journal.pone.0178384. PMID: 28542515Free PMC Article

Clinical prediction guides

A novel frameshift mutation of SMPX causes a rare form of X-linked nonsyndromic hearing loss in a Chinese family.
Niu Z, Feng Y, Mei L, Sun J, Wang X, Wang J, Hu Z, Dong Y, Chen H, He C, Liu Y, Cai X, Liu X, Jiang L
PLoS One 2017;12(5):e0178384. Epub 2017 May 25 doi: 10.1371/journal.pone.0178384. PMID: 28542515Free PMC Article

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