Deafness, X-linked 2; Dfnx2

Description

DFNX2, also known as DFN3, is an X-linked recessive disorder characterized by progressive conductive and sensorineural hearing loss and a pathognomonic temporal bone deformity that includes dilatation of the inner auditory canal and a fistulous connection between the internal auditory canal and the cochlear basal turn, resulting in a perilymphatic fluid 'gusher' during stapes surgery (summary by de Kok et al., 1995 and Song et al., 2010).See also choroideremia, deafness, and mental retardation (OMIM ), a contiguous gene deletion syndrome involving the POU3F4 and CHM (OMIM ) genes on Xq21; isolated choroideremia (OMIM ) is caused by mutation in the CHM gene.

Clinical Features

Top most frequent phenotypes and symptoms related to Deafness, X-linked 2; Dfnx2

  • Intellectual disability
  • Global developmental delay
  • Hearing impairment
  • Sensorineural hearing impairment
  • Edema
  • Dilatation
  • Conductive hearing impairment
  • Mixed hearing impairment
  • Abnormality of the ear
  • Progressive sensorineural hearing impairment

And another 5 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
No data available about the known clinical features onset.

Alternative names

Deafness, X-linked 2; Dfnx2 Is also known as deafness 3, conductive, with stapes fixation, sensorineural deafness, profound, with or without a conductive component, associated with a unique developmental abnormality of the ear, perilymphatic gusher-deafness syndrome, deafness, mixed, with perilymphatic.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.


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Deafness, X-linked 2; Dfnx2 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
POU3F4 Sequence Analysis.

By Baylor Miraca Genetics Laboratories (United States).

POU3F4
Specificity
100 %
Genes
100 %
POU3F4 Sequence Analysis (Familial Mutation/Variant Analysis).

By Baylor Miraca Genetics Laboratories (United States).

POU3F4
Specificity
100 %
Genes
100 %
POU3F4 Sequence Analysis (Prenatal Diagnosis).

By Baylor Miraca Genetics Laboratories (United States).

POU3F4
Specificity
100 %
Genes
100 %
Hearing Loss Advanced Sequencing and CNV Evaluation.

By Athena Diagnostics Inc (United States).

BCS1L, ROR1, SALL1, SEMA3E, SIX1, SIX5, SLC12A1, SLC19A2, SLC22A4, SNAI2, SMPX, SOX10, TBX1, TCOF1, TECTA, TFAP2A, TIMM8A, TJP2, TMPRSS3, USH1C , (...)

View the complete list with 149 more genes
Specificity
1 %
Genes
100 %
NGS Hearing Loss Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).

SIX1, SNAI2, SMPX, SOX10, TECTA, TIMM8A, TJP2, TMPRSS3, USH1C, USH2A, CLRN1, TSPEAR, WFS1, ESPN, CDH23, CACNA1D, ACTG1, PCDH15, USH1G, WHRN , (...)

View the complete list with 70 more genes
Specificity
2 %
Genes
100 %
Test for DFNX2 Nonsyndromic Hearing Loss and Deafness.

By Genome Diagnostics Laboratory University Medical Center Utrecht (Netherlands).

POU3F4
Specificity
100 %
Genes
100 %
OtoSCOPE.

By Molecular Otolaryngology and Renal Research Laboratories University of Iowa Hospital and Clinics (United States).

ROR1, SIX1, SIX5, SLC22A4, SNAI2, SMPX, SOX10, TBX1, TWNK, TCOF1, TECTA, TIMM8A, TJP2, TMPRSS3, USH1C, USH2A, CLRN1, TSPEAR, WFS1, ESPN , (...)

View the complete list with 130 more genes
Specificity
1 %
Genes
100 %
Hearing Loss Panel.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University (United States).

RPS6KA3, SALL1, SEMA3E, SIX1, SIX5, SLC19A2, SNAI2, SMPX, SOX10, BTD, TCOF1, TECTA, TIMM8A, TJP2, TMPRSS3, USH1C, USH2A, CLRN1, WFS1, ESPN , (...)

View the complete list with 100 more genes
Specificity
1 %
Genes
100 %

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Sources and references

You can check the following sources for additional information.

OMIM Genetic Syndrome Finder

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