Novel domain-specific POU3F4 mutations are associated with X-linked deafness: examples from different populations

Bademci, Güney; Lasisi, Akeem O.; Yariz, Kemal O.; Montenegro, Paola; Menéndez, Ibis; Vinueza, Rodrigo; Paredes, Rosario; Moreta, Germania; Subaşıoğlu, Aslı; Blanton, Susan H.; Fítöz, Suat; İncesulu, Armağan; Sennaroḡlu, Levent; Tekin, Mustafa

doi:10.1186/s12881-015-0149-2

Cited by 16 publications

(16 citation statements)

References 23 publications

(21 reference statements)

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“…Last but not the least, DFNX3 has already been diagnosed in molecular level, so POU3F4 gene should be screened in the outpatient persons who have the clinical phenotypes of DFNX3. [272829] Our study also has some limitations. On one hand, more pedigree and sporadic people should be recruited.…”

Section: Discussionmentioning

confidence: 96%

A POU3F4 Mutation Causes Nonsyndromic Hearing Loss in a Chinese X-linked Recessive Family

Han

Wang

et al. 2017

Chinese Medical Journal

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Background:The molecular genetic research showed the association between X-linked hearing loss and mutations in POU3F4. This research aimed to identify a POU3F4 mutation in a nonsyndromic X-linked recessive hearing loss family.Methods:A series of clinical evaluations including medical history, otologic examinations, family history, audiologic testing, and a high-resolution computed tomography scan were performed for each patient. Bidirectional sequencing was carried out for all polymerase chain reaction products of the samples. Moreover, 834 controls with normal hearing were also tested.Results:The pedigree showed X-linkage recessive inheritance pattern, and pathogenic mutation (c.499C>T) was identified in the proband and his family member, which led to a premature termination prior to the entire POU domains. This mutation co-segregated with hearing loss in this family. No mutation of POU3F4 gene was found in 834 controls.Conclusions:A nonsense mutation is identified in a family displaying the pedigree consistent with X-linked recessive pattern in POU3F4 gene. In addition, we may provide molecular diagnosis and genetic counseling for this family.

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Section: Discussionmentioning

confidence: 96%

A POU3F4 Mutation Causes Nonsyndromic Hearing Loss in a Chinese X-linked Recessive Family

Han

Wang

et al. 2017

Chinese Medical Journal

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“…The first gene identified for a non-syndromic X-linked form of hearing loss was the gene POU3F4 located in the DFNX2 locus [84]. Nance et al in 1971 [85], described DFNX2 as a recessive X-linked condition characterized in males by profound mixed hearing loss, vestibular abnormalities and congenital fixation at the stapes with perilymphatic gusher.…”

Section: Non-syndromic Sensorineural Hearing Lossmentioning

confidence: 99%

X-Linked Sensorineural Hearing Loss: A Literature Review

Corvino

Apisa

Malesci

et al. 2018

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Sensorineural hearing loss is a very diffuse pathology (about 1/1000 born) with several types of transmission. X-linked hearing loss accounts for approximately 1% - 2% of cases of non-syndromic forms, as well as for many syndromic forms. To date, six loci (DFNX1-6) and five genes (PRPS1 for DFNX1, POU3F4 for DFNX2, SMPX for DFNX4, AIFM1 for DFNX5 and COL4A6 for DFNX6) have been identified for X-linked non-syndromic hearing loss. For the syndromic forms, at least 15 genes have been identified, some of which are also implicated in non-syndromic forms. Moreover, some syndromic forms, presenting large chromosomal deletions, are associated with mental retardation too. This review presents an overview of the currently known genes related to X-linked hearing loss with the support of the most recent literature. It summarizes the genetics and clinical features of X-linked hearing loss to give information useful to realize a clear genetic counseling and an early diagnosis. It is important to get an early diagnosis of these diseases to decide the investigations to predict the evolution of the disease and the onset of any other future symptoms. This information will be clearly useful for choosing the best therapeutic strategy. In particular, regarding audiological aspects, this review highlights risks and benefits currently known in some cases for specific therapeutic intervention.

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“…Molecular genetic studies of congenital deafness in Nigeria revealed that mutations in the known deafness genes [ GJB2 (MIM 121011) , GJB6 (MIM 604418) , SLC26A4 (MIM 605646)] that are common in Europe and America are uncommon among Nigerian deaf patients (Lasisi, Bademci, Foster, Blanton, & Tekin, ). Subsequent studies identified a novel mutation responsible for X‐linked deafness—c.987T>C (p.Ile308Thr) in POU3F4 (MIM 300039), the first novel deafness gene among Nigerians (Bademci et al., ). An ongoing collaborative project is studying the genomics of CHD in Lagos using an approach that includes chromosomal array screening, whole exome capture and sequencing (WES) as well as functional studies.…”

Section: Genetics Research In Nigeriamentioning

confidence: 99%