BibTex RIS Kaynak Göster

Yıl 2018, Cilt: 35 Sayı: 2, 196 - 198, 01.03.2018

John Masterson Busegül Yıldırım Ece Gökkaya Suna Tokgöz Yılmaz Mustafa Tekin

Öz

Kaynakça

  • 1. Kemperman MH, Hoefsloot LH, Cremers CW. Hearing loss and connexin 26. J R Soc Med 2002;95:171-7.
  • 2. Morton CC, Nance WE. Newborn hearing screening a silent revolution. N Engl J Med 2006;354:2151-64.
  • 3. Vozzi D, Morgan A, Vuckovic D, D'Eustacchio A, Abdulhadi K, Rubinato E, et al. Hereditary hearing loss: a 96 gene targeted sequencing protocol reveals novel alleles in a series of Italian and Qatari patients. Gene 2014;542:209-16.
  • 4. Finsterer J, Fellinger J. Nuclear and mitochondrial genes mutated in nonsyndromic impaired hearing. Int J Pediatr Otorhinolaryngol 2005;69:621-47.
  • 5. Atik T, Bademci G, Diaz-Horta O, Blanton SH, Tekin M. Whole-exome sequencing and its impact in hereditary hearing loss. Genet Res (Camb) 2015;97:e4.
  • 6. Bademci G, Foster J, Mahdieh N, Bonyadi M, Duman D, Cengiz FB, et al. Comprehensive Analysis via Exome Sequencing Uncovers Genetic Etiology in Autosomal Recessive Non-Syndromic Deafness in a Large Multiethnic Cohort. Genet Med 2016;18:364-71.
  • 7. Starr DA, Han M. ANChors away: an actin based mechanism of nuclear positioning. J Cell Sci 2003;116:211-6.
  • 8. Dallos P. Cochlear amplification, outer hair cells and prestin. Curr Opin Neurobiol 2008;18:370-6.
  • 9. Horn HF, Brownstein Z, Lenz DR, Shivatzki S, Dror AA, Dagan-Rosenfeld O, et al. The LINC complex is essential for hearing. J Clin Invest 2013;123:740-50.
  • 10. Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, et al. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med 2015;17:405-24.

A Novel Variant in SYNE4 Confirms its Causative Role in Sensorineural Hearing Loss

Yıl 2018, Cilt: 35 Sayı: 2, 196 - 198, 01.03.2018

John Masterson Busegül Yıldırım Ece Gökkaya Suna Tokgöz Yılmaz Mustafa Tekin

Öz

In this report it was presented two members of a family with non-syndromic high frequency sensorineural hearing loss who are homozygous for a novel pathogenic SYNE4 variant c.129-1G>T. This case report provides supportive evidence for the causative role of SYNE4 variants in hearing loss by presenting an additional family with a novel DNA variant. Background: Hearing loss is the most common sensory deficit with many genetic and environmental underpinnings. While causative DNA variants have been identified in over 100 genes, most deafness-causing variants are rare, apart from a few exceptions. A single SYNE4 variant co-segregating with hearing loss has recently been reported in two Middle-Eastern families. Case Report: In this report we present two members of a family with non-syndromic high frequency sensorineural hearing loss who are homozygous for a novel pathogenic SYNE4 variant c.129-1G>T. Conclusion: This case report provides supportive evidence for the causative role of SYNE4 variants in hearing loss by presenting an additional family with a novel DNA variant.

Anahtar Kelimeler

Hearing loss SYNE4 gene high-throughput DNA sequencing

Kaynakça

  • 1. Kemperman MH, Hoefsloot LH, Cremers CW. Hearing loss and connexin 26. J R Soc Med 2002;95:171-7.
  • 2. Morton CC, Nance WE. Newborn hearing screening a silent revolution. N Engl J Med 2006;354:2151-64.
  • 3. Vozzi D, Morgan A, Vuckovic D, D'Eustacchio A, Abdulhadi K, Rubinato E, et al. Hereditary hearing loss: a 96 gene targeted sequencing protocol reveals novel alleles in a series of Italian and Qatari patients. Gene 2014;542:209-16.
  • 4. Finsterer J, Fellinger J. Nuclear and mitochondrial genes mutated in nonsyndromic impaired hearing. Int J Pediatr Otorhinolaryngol 2005;69:621-47.
  • 5. Atik T, Bademci G, Diaz-Horta O, Blanton SH, Tekin M. Whole-exome sequencing and its impact in hereditary hearing loss. Genet Res (Camb) 2015;97:e4.
  • 6. Bademci G, Foster J, Mahdieh N, Bonyadi M, Duman D, Cengiz FB, et al. Comprehensive Analysis via Exome Sequencing Uncovers Genetic Etiology in Autosomal Recessive Non-Syndromic Deafness in a Large Multiethnic Cohort. Genet Med 2016;18:364-71.
  • 7. Starr DA, Han M. ANChors away: an actin based mechanism of nuclear positioning. J Cell Sci 2003;116:211-6.
  • 8. Dallos P. Cochlear amplification, outer hair cells and prestin. Curr Opin Neurobiol 2008;18:370-6.
  • 9. Horn HF, Brownstein Z, Lenz DR, Shivatzki S, Dror AA, Dagan-Rosenfeld O, et al. The LINC complex is essential for hearing. J Clin Invest 2013;123:740-50.
  • 10. Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, et al. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med 2015;17:405-24.
Toplam 10 adet kaynakça vardır.

Ayrıntılar

Diğer ID JA54PS99YH
Bölüm Araştırma Makalesi
Yazarlar

John Masterson Bu kişi benim

Busegül Yıldırım Bu kişi benim

Ece Gökkaya Bu kişi benim

Suna Tokgöz Yılmaz

Mustafa Tekin Bu kişi benim

Yayımlanma Tarihi 1 Mart 2018
Yayımlandığı Sayı Yıl 2018 Cilt: 35 Sayı: 2

Kaynak Göster

APA Masterson, J., Yıldırım, B., Gökkaya, E., Yılmaz, S. T., vd. (2018). A Novel Variant in SYNE4 Confirms its Causative Role in Sensorineural Hearing Loss. Balkan Medical Journal, 35(2), 196-198.
AMA Masterson J, Yıldırım B, Gökkaya E, Yılmaz ST, Tekin M. A Novel Variant in SYNE4 Confirms its Causative Role in Sensorineural Hearing Loss. Balkan Medical Journal. Mart 2018;35(2):196-198.
Chicago Masterson, John, Busegül Yıldırım, Ece Gökkaya, Suna Tokgöz Yılmaz, ve Mustafa Tekin. “A Novel Variant in SYNE4 Confirms Its Causative Role in Sensorineural Hearing Loss”. Balkan Medical Journal 35, sy. 2 (Mart 2018): 196-98.
EndNote Masterson J, Yıldırım B, Gökkaya E, Yılmaz ST, Tekin M (01 Mart 2018) A Novel Variant in SYNE4 Confirms its Causative Role in Sensorineural Hearing Loss. Balkan Medical Journal 35 2 196–198.
IEEE J. Masterson, B. Yıldırım, E. Gökkaya, S. T. Yılmaz, ve M. Tekin, “A Novel Variant in SYNE4 Confirms its Causative Role in Sensorineural Hearing Loss”, Balkan Medical Journal, c. 35, sy. 2, ss. 196–198, 2018.
ISNAD Masterson, John vd. “A Novel Variant in SYNE4 Confirms Its Causative Role in Sensorineural Hearing Loss”. Balkan Medical Journal 35/2 (Mart 2018), 196-198.
JAMA Masterson J, Yıldırım B, Gökkaya E, Yılmaz ST, Tekin M. A Novel Variant in SYNE4 Confirms its Causative Role in Sensorineural Hearing Loss. Balkan Medical Journal. 2018;35:196–198.
MLA Masterson, John vd. “A Novel Variant in SYNE4 Confirms Its Causative Role in Sensorineural Hearing Loss”. Balkan Medical Journal, c. 35, sy. 2, 2018, ss. 196-8.
Vancouver Masterson J, Yıldırım B, Gökkaya E, Yılmaz ST, Tekin M. A Novel Variant in SYNE4 Confirms its Causative Role in Sensorineural Hearing Loss. Balkan Medical Journal. 2018;35(2):196-8.