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Novel pathogenic variants underlie SLC26A4-related hearing loss in a multiethnic cohort.
Cengiz, Filiz Basak; Yilmazer, Rasim; Olgun, Levent; Sennaroglu, Levent; Kirazli, Tayfun; Alper, Hudaver; Olgun, Yuksel; Incesulu, Armagan; Atik, Tahir; Huesca-Hernandez, Fabiola; Domínguez-Aburto, Juan; González-Rosado, Garly; Hernandez-Zamora, Edgar; Arenas-Sordo, Maria de la Luz; Menendez, Ibis; Orhan, Kadir Serkan; Avci, Hakan; Mahdieh, Nejat; Bonyadi, Mortaza; Foster, Joseph; Duman, Duygu; Ozkinay, Ferda; Blanton, Susan H; Bademci, Guney; Tekin, Mustafa.
Afiliación
  • Cengiz FB; John P. Hussman Institute for Human Genomics, University of Miami, Miller School of Medicine, Miami, FL, USA.
  • Yilmazer R; Yeditepe University, Medicine Faculty, Department of Ear Nose Throat Surgery, Istanbul, Turkey.
  • Olgun L; Department of Otorhinolaryngology, Bozyaka Training and Research Hospital, Bozyaka, Izmir, 35170, Turkey.
  • Sennaroglu L; Department of Otorinolaryngology, Hacettepe University School of Medicine, Ankara, Turkey.
  • Kirazli T; Department of Otolaryngology, Ege University School of Medicine, Izmir, 35040, Turkey.
  • Alper H; Department of Radiology, Ege University School of Medicine, Izmir, 35040, Turkey.
  • Olgun Y; Department of Otorhinolaryngology, Bozyaka Training and Research Hospital, Bozyaka, Izmir, 35170, Turkey.
  • Incesulu A; Department of Otorinolaryngology, Head and Neck Surgery, Eskisehir Osmangazi University, Eskisehir, Turkey.
  • Atik T; Division of Genetics, Department of Pediatrics, Ege University School of Medicine, Izmir, 35040, Turkey.
  • Huesca-Hernandez F; Research Clinical Subdirection, National Institute of Rehabilitation, Mexico City, Mexico.
  • Domínguez-Aburto J; Research Clinical Subdirection, National Institute of Rehabilitation, Mexico City, Mexico.
  • González-Rosado G; Computed Tomography Service, National Institute of Rehabilitation, Mexico City, Mexico.
  • Hernandez-Zamora E; Research Clinical Subdirection, National Institute of Rehabilitation, Mexico City, Mexico.
  • Arenas-Sordo ML; Research Clinical Subdirection, National Institute of Rehabilitation, Mexico City, Mexico.
  • Menendez I; John P. Hussman Institute for Human Genomics, University of Miami, Miller School of Medicine, Miami, FL, USA.
  • Orhan KS; Department of Otolaryngology and Head and Neck Surgery, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey.
  • Avci H; Department of Otolaryngology and Head and Neck Surgery, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey.
  • Mahdieh N; Rajaie Cardiovascular Medical and Research Center, Iran University of Medical Sciences, Tehran, Iran.
  • Bonyadi M; Faculty of Natural Sciences, Center of Excellence for Biodiversity, University of Tabriz, Tabriz, Iran.
  • Foster J; John P. Hussman Institute for Human Genomics, University of Miami, Miller School of Medicine, Miami, FL, USA.
  • Duman D; Division of Pediatric Genetics, Ankara University School of Medicine, Ankara, Turkey.
  • Ozkinay F; Division of Genetics, Department of Pediatrics, Ege University School of Medicine, Izmir, 35040, Turkey.
  • Blanton SH; John P. Hussman Institute for Human Genomics, University of Miami, Miller School of Medicine, Miami, FL, USA; Dr. John T. Macdonald Foundation, Department of Human Genetics, University of Miami, Miller School of Medicine, Miami, FL, USA; Department of Otorhinolaryngology, University of Miami, Miller
  • Bademci G; John P. Hussman Institute for Human Genomics, University of Miami, Miller School of Medicine, Miami, FL, USA.
  • Tekin M; John P. Hussman Institute for Human Genomics, University of Miami, Miller School of Medicine, Miami, FL, USA; Dr. John T. Macdonald Foundation, Department of Human Genetics, University of Miami, Miller School of Medicine, Miami, FL, USA; Department of Otorhinolaryngology, University of Miami, Miller
Int J Pediatr Otorhinolaryngol ; 101: 167-171, 2017 Oct.
Article en En | MEDLINE | ID: mdl-28964290
ABSTRACT

OBJECTIVES:

The genetics of sensorineural hearing loss is characterized by a high degree of heterogeneity. Despite this heterogeneity, DNA variants found within SLC26A4 have been reported to be the second most common contributor after those of GJB2 in many populations.

METHODS:

Whole exome sequencing and/or Sanger sequencing of SLC26A4 in 117 individuals with sensorineural hearing loss with or without inner ear anomalies but not with goiter from Turkey, Iran, and Mexico were performed.

RESULTS:

We identified 27 unique SLC26A4 variants in 31 probands. The variants c.1673A > G (p.N558S), c.1708-1G > A, c.1952C > T (p.P651L), and c.2090-1G > A have not been previously reported. The p.N558S variant was detected in two unrelated Mexican families.

CONCLUSION:

A range of SLC26A4 variants without a common recurrent mutation underlies SLC26A4-related hearing loss in Turkey, Iran, and Mexico.
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Proteínas de Transporte de Membrana / Pérdida Auditiva Sensorineural Límite: Female / Humans / Male País/Región como asunto: Asia / Mexico Idioma: En Revista: Int J Pediatr Otorhinolaryngol Año: 2017 Tipo del documento: Article País de afiliación: Estados Unidos
Texto completo
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Proteínas de Transporte de Membrana / Pérdida Auditiva Sensorineural Límite: Female / Humans / Male País/Región como asunto: Asia / Mexico Idioma: En Revista: Int J Pediatr Otorhinolaryngol Año: 2017 Tipo del documento: Article País de afiliación: Estados Unidos