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

Guney Bademci; Akeem Lasisi; Kemal O Yariz; Paola Montenegro; Ibis Menendez; Rodrigo Vinueza; Rosario Paredes; Germania Moreta; Asli Subasioglu; Susan Blanton; Suat Fitoz; Armagan Incesulu; Levent Sennaroglu; Mustafa Tekin

doi:10.1186/s12881-015-0149-2

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

Journal article

Open access

Peer reviewed

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

Guney Bademci, Akeem Lasisi, Kemal O Yariz, Paola Montenegro, Ibis Menendez, Rodrigo Vinueza, Rosario Paredes, Germania Moreta, Asli Subasioglu, Susan Blanton, …

BMC medical genetics, Vol.16(1), pp.9-9

2015-02-25

DOI: https://doi.org/10.1186/s12881-015-0149-2

PMCID: PMC4422282

PMID: 25928534

Abstract

Protein Structure, Tertiary

Deafness - genetics

Humans

Child, Preschool

Models, Molecular

Deafness - ethnology

Male

Genetic Diseases, X-Linked - ethnology

POU Domain Factors - genetics

Pedigree

Female

Genetic Diseases, X-Linked - genetics

POU Domain Factors - chemistry

Cohort Studies

Mutations in the POU3F4 gene cause X-linked deafness type 3 (DFN3), which is characterized by inner ear anomalies. Three Turkish, one Ecuadorian, and one Nigerian families were included based on either inner ear anomalies detected in probands or X-linked family histories. Exome sequencing and/or Sanger sequencing were performed in order to identify the causative DNA variants in these families. Four novel, c.707A>C (p.(Glu236Ala)), c.772delG (p.(Glu258ArgfsX30)), c.902C>T (p.(Pro301Leu)), c.987T>C (p.(Ile308Thr)), and one previously reported mutation c.346delG (p.(Ala116ProfsX26)) in POU3F4, were identified. All mutations identified are predicted to affect the POU-specific or POU homeo domains of the protein and co-segregated with deafness in all families. Expanding the spectrum of POU3F4 mutations in different populations along with their associated phenotypes provides better understanding of their clinical importance and will be helpful in clinical evaluation and counseling of the affected individuals.

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Collaboration types: Domestic collaboration; International collaboration
Citation topics: 1 Clinical & Life Sciences; 1.150 Hearing Loss; 1.150.427 Cochlear Implant
Web Of Science research areas: Genetics & Heredity
ESI research areas: Molecular Biology & Genetics

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Details

Title: Novel domain-specific POU3F4 mutations are associated with X-linked deafness: examples from different populations
Creators: Guney Bademci - John P. Hussmann Institute for Human Genomics and John T. Macdonald Foundation, Department of Human Genetics, Miller school of Medicine, University of Miami, 1501 NW 10th Avenue, BRB-610 (M-860), Miami, FL, 33136, USA. g.bademci@med.miami.edu
Akeem Lasisi - Department of Otorhinolaryngology, College of Medicine, University of Ibadan, Ibadan, Nigeria. akeemlasisi@gmail.com
Kemal O Yariz - John P. Hussmann Institute for Human Genomics and John T. Macdonald Foundation, Department of Human Genetics, Miller school of Medicine, University of Miami, 1501 NW 10th Avenue, BRB-610 (M-860), Miami, FL, 33136, USA. koyariz@gmail.com
Paola Montenegro - Departamento de Genetica, Hospital de Especialidades FFAA, Quito, Ecuador. paom14@gmail.com
Ibis Menendez - John P. Hussmann Institute for Human Genomics and John T. Macdonald Foundation, Department of Human Genetics, Miller school of Medicine, University of Miami, 1501 NW 10th Avenue, BRB-610 (M-860), Miami, FL, 33136, USA. IMenendez1@med.miami.edu
Rodrigo Vinueza - Departamento de Genetica, Hospital de Especialidades FFAA, Quito, Ecuador. genmolhg1@gmail.com
Rosario Paredes - Departamento de Genetica, Hospital de Especialidades FFAA, Quito, Ecuador. charoparedes@yahoo.fr
Germania Moreta - Departamento de Genetica, Hospital de Especialidades FFAA, Quito, Ecuador. germaniamoreta@yahoo.com
Asli Subasioglu - Department of Medical Genetics, Izmir Katip Celebi University, Ataturk Training and Research Hospital, Izmir, Turkey. asuzak78@hotmail.com
Susan Blanton - John P. Hussmann Institute for Human Genomics and John T. Macdonald Foundation, Department of Human Genetics, Miller school of Medicine, University of Miami, 1501 NW 10th Avenue, BRB-610 (M-860), Miami, FL, 33136, USA. SBlanton@med.miami.edu
Suat Fitoz - Department of Radiodiagnostics, Ankara University School of Medicine, Ankara, Turkey. sfitoz@yahoo.com
Armagan Incesulu - Department of Otorhinolaryngology, Eskisehir Osmangazi University School of Medicine, Eskisehir, Turkey. armaganincesulu@yahoo.com
Levent Sennaroglu - Department of Otorhinolaryngology, Hacettepe University School of Medicine, Ankara, Turkey. lsennaroglu@gmail.com
Mustafa Tekin - John P. Hussmann Institute for Human Genomics and John T. Macdonald Foundation, Department of Human Genetics, Miller school of Medicine, University of Miami, 1501 NW 10th Avenue, BRB-610 (M-860), Miami, FL, 33136, USA. mtekin@med.miami.edu
Publication Details: BMC medical genetics, Vol.16(1), pp.9-9
Publisher: England
Grant note: R01 DC012836 / NIDCD NIH HHS R01DC012836 / NIDCD NIH HHS R01 DC009645 / NIDCD NIH HHS
Academic Unit: Miller School of Medicine; John P. Hussman Institute for Human Genomics; UMMG Dept of Human Genetics - Clinical and Translational Genetics; UMMG Dept of Human Genetics (Dr. John T. Macdonald Foundation)
Language: English
Resource Type: Journal article
PMID: 25928534
PMCID: PMC4422282
Record Identifier: 991031560102002976