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Deafness, X-linked 2(DFNX2)

MedGen UID:
336750
Concept ID:
C1844678
Disease or Syndrome
Synonyms: Deafness 3 conductive with stapes fixation; Deafness conductive with stapes fixation; Deafness mixed with perilymphatic gusher; Dfn 3 nonsyndromic hearing loss and deafness; DFNB 1 Nonsyndromic Hearing Loss and Deafness; DFNX2; DFNX2 Nonsyndromic Hearing Loss and Deafness; Gusher syndrome; Nance deafness; Perilymphatic Gusher-deafness syndrome; Sensorineural deafness, profound, with or without a conductive component, associated with a unique developmental abnormality of the ear
Modes of inheritance:
X-linked recessive inheritance
MedGen UID:
425042
Concept ID:
CN001297
Genetic Function
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.
 
Genes: GJB6; POU3F4; GJB2
Cytogenetic locations: 13q12.11; Xq21.1
OMIM: 304400

Disease characteristics

Excerpted from the GeneReview: Deafness and Hereditary Hearing Loss Overview
Hereditary hearing loss and deafness may be conductive, sensorineural, or a combination of both; syndromic (associated with malformations of the external ear or other organs or with medical problems involving other organ systems) or nonsyndromic (no associated visible abnormalities of the external ear or any related medical problems); and prelingual (before language develops) or postlingual (after language develops). [from GeneReviews]
Full text of GeneReview (by section):
Summary  |  Definition  |  Causes  |  Evaluation Strategy  |  Genetic Counseling  |  Resources  |  Management  |  References  |  Chapter Notes
Authors:
Richard JH Smith  |  A Eliot Shearer  |  Michael S Hildebrand, et. al.   view full author information

Additional description

From OMIM
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 (303110), a contiguous gene deletion syndrome involving the POU3F4 and CHM (300390) genes on Xq21; isolated choroideremia (303100) is caused by mutation in the CHM gene.  http://www.omim.org/entry/304400

Clinical features

Conductive hearing impairment
MedGen UID:
504435
Concept ID:
CN000378
Finding
An abnormality of `vibrational conductance of sound to the inner ear` (GO:0055127) leading to impairment of `sensory perception of sound` (GO:0007605).
Progressive sensorineural hearing impairment
MedGen UID:
500887
Concept ID:
CN000381
Finding
A `progressive` (PATO:0001818) form of `sensorineural hearing impairment` (HP:0000407).

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews

Professional guidelines

PubMed

Alford RL, Arnos KS, Fox M, Lin JW, Palmer CG, Pandya A, Rehm HL, Robin NH, Scott DA, Yoshinaga-Itano C; ACMG Working Group on Update of Genetics Evaluation Guidelines for the Etiologic Diagnosis of Congenital Hearing Loss; Professional Practice and Guidelines Committee
Genet Med 2014 Apr;16(4):347-55. Epub 2014 Mar 20 doi: 10.1038/gim.2014.2. [Epub ahead of print] PMID: 24651602

Recent clinical studies

Etiology

Krouchi L, Callonnec F, Bouchetemblé P, Tollard E, Dehesdin D, Marie JP
Ann Otol Rhinol Laryngol 2013 Jun;122(6):374-7. PMID: 23837389

Diagnosis

Krouchi L, Callonnec F, Bouchetemblé P, Tollard E, Dehesdin D, Marie JP
Ann Otol Rhinol Laryngol 2013 Jun;122(6):374-7. PMID: 23837389

Therapy

Krouchi L, Callonnec F, Bouchetemblé P, Tollard E, Dehesdin D, Marie JP
Ann Otol Rhinol Laryngol 2013 Jun;122(6):374-7. PMID: 23837389

Prognosis

Krouchi L, Callonnec F, Bouchetemblé P, Tollard E, Dehesdin D, Marie JP
Ann Otol Rhinol Laryngol 2013 Jun;122(6):374-7. PMID: 23837389

Clinical prediction guides

Krouchi L, Callonnec F, Bouchetemblé P, Tollard E, Dehesdin D, Marie JP
Ann Otol Rhinol Laryngol 2013 Jun;122(6):374-7. PMID: 23837389

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