RGD Reference Report - Association between X-linked mixed deafness and mutations in the POU domain gene POU3F4. - Rat Genome Database

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Association between X-linked mixed deafness and mutations in the POU domain gene POU3F4.

Authors: De Kok, YJ  Van der Maarel, SM  Bitner-Glindzicz, M  Huber, I  Monaco, AP  Malcolm, S  Pembrey, ME  Ropers, HH  Cremers, FP 
Citation: de Kok YJ, etal., Science. 1995 Feb 3;267(5198):685-8.
RGD ID: 1599155
Pubmed: PMID:7839145   (View Abstract at PubMed)

Deafness with fixation of the stapes (DFN3) is the most frequent X-linked form of hearing impairment. The underlying gene has been localized to a 500-kilobase segment of the Xq21 band. Here, it is reported that a candidate gene for this disorder, Brain 4 (POU3F4), which encodes a transcription factor with a POU domain, maps to the same interval. In five unrelated patients with DFN3 but not in 50 normal controls, small mutations were found that result in truncation of the predicted protein or in nonconservative amino acid substitutions. These findings indicate that POU3F4 mutations are a molecular cause of DFN3.

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
Deafness  IAGP 1599155 RGD 
Deafness  ISOPOU3F4 (Homo sapiens)1599155; 1599155 RGD 

Objects Annotated

Genes (Rattus norvegicus)
Pou3f4  (POU class 3 homeobox 4)

Genes (Mus musculus)
Pou3f4  (POU domain, class 3, transcription factor 4)

Genes (Homo sapiens)
POU3F4  (POU class 3 homeobox 4)


Additional Information