The first case of NSHL by direct impression on EYA۱ gene and identification of one novel mutation in MYO۷A in the Iranian families

سال انتشار: 1397
نوع سند: مقاله ژورنالی
زبان: انگلیسی
مشاهده: 72

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شناسه ملی سند علمی:

JR_IJBMS-21-3_014

تاریخ نمایه سازی: 27 مهر 1400

چکیده مقاله:

Objective(s): Targeted next-generation sequencing (NGS) provides a consequential opportunity to elucidate genetic factors in known diseases, particularly in profoundly heterogeneous disorders such as non-syndromic hearing loss (NSHL). Hearing impairments could be classified into syndromic and non-syndromic types. This study intended to assess the significance of mutations in these genes to the autosomal recessive/dominant non-syndromic genetic load among Iranian families. Materials and Methods: Two families were involved in this research and two patients were examined by targeted next-generation sequencing. Here we report two novel mutations in the MYO۷A and EYA۱ genes in two patients detected by targeted NGS. They were confirmed by Sanger sequencing and quantitative real-time PCR techniques. Results: In this investigation, we identified a novel mutation in MYO۷A, c.۳۷۵۱G>C, p.A۱۲۵۱P, along with another previously identified mutation (c.۱۷۰۸C>T) in one of the cases. This mutation is located in the MYTH۴ protein domain which is a pivotal domain for the myosin function. Another finding in this research was a novel de-novo deletion which deletes the entire EYA۱ coding region (EX۱-۱۸ DEL). Mutations in EYA۱ gene have been found in branchiootorenal (BOR) syndrome. Interestingly the patient with EYA۱ deletion did not show any other additional clinical implications apart from HL. This finding might argue for the sole involvement of EYA۱ function in the mechanism of hearing. Conclusion: This investigation exhibited that the novel mutations in MYO۷A, c.۳۷۵۱G>C, p.A۱۲۵۱P, and EYA۱, EX۱-۱۸ DEL, were associated with NSHL. Our research increased the mutation spectrum of hearing loss in the Iranian population.

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نویسندگان

Ehsan Razmara

Department of Medical Genetics, Faculty of Medical Sciences, Tarbiat Modares University, Tehran, Iran

Fatemeh Bitarafan

Department of Medical Genetics, DeNA Laboratory, Tehran, Iran

Elika Esmaeilzadeh-Gharehdaghi

Department of Medical Genetics, Faculty of Medical Sciences, Tarbiat Modares University, Tehran, Iran

Navid Almadani

Department of Genetics, Reproductive Biomedicine Research Center, Royan Institute for Reproductive Biomedicine, ACECR, Tehran, Iran

Masoud Garshasbi

Department of Medical Genetics, Faculty of Medical Sciences, Tarbiat Modares University, Tehran, Iran

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  • ۱.Smith RJ, Bale JF, White KR. Sensorineural hearing loss in ...
  • ۲.Kochhar A, Hildebrand MS, Smith RJ. Clinical aspects of hereditary ...
  • ۳.Mattox DE, Simmons FB. Natural history of sudden sensorineural hearing ...
  • ۴.Pandya A. Nonsyndromic hearing loss and deafness, mitochondrial. ۱۹۹۳ ...
  • ۵.Van Camp G, Smith RJ. Hereditary hearing loss homepage. ۲۰۰۶ ...
  • ۶.Cremers CWRJ, Smith R. Genetic hearing impairment: its clinical presentations: ...
  • ۷.Nance WE. The genetics of deafness. Mental retardation and developmental ...
  • ۸.Zou D, Erickson C, Kim E-H, Jin D, Fritzsch B, ...
  • ۹.Panel GEoCHLE. Genetics evaluation guidelines for the etiologic diagnosis of ...
  • ۱۰.Tang HY, Fang P, Ward PA, Schmitt E, Darilek S, ...
  • ۱۱.Noori-Daloii M. Mutation analysis of GJB۲ and GJB۶ genes and ...
  • ۱۲.Chaleshtori MH, Farhud D, Taylor R, Hadavi V, Patton M, ...
  • ۱۳.Liu Y, Wei X, Kong X, Guo X, Sun Y, ...
  • ۱۴.Stitziel NO, Kiezun A, Sunyaev S. Computational and statistical approaches ...
  • ۱۵.Browser E. Exome Aggregation Consortium Website. ۲۰۱۵ ...
  • ۱۶.Stenson PD, Ball EV, Mort M, Phillips AD, Shiel JA, ...
  • ۱۷.Schwarz JM, Rödelsperger C, Schuelke M, Seelow D. MutationTaster evaluates ...
  • ۱۸.Guex N, Peitsch MC. SWISS‐MODEL and the Swiss‐Pdb Viewer: an ...
  • ۱۹.Haas J, Roth S, Arnold K, Kiefer F, Schmidt T, ...
  • ۲۰.Wu L, Pan L, Wei Z, Zhang M. Structure of ...
  • ۲۱.Kaplan W, Littlejohn TG. Swiss-PDB viewer (deep view). Briefings in ...
  • ۲۲.Capriotti E, Fariselli P, Casadio R. I-Mutant۲.۰: predicting stability changes ...
  • ۲۳.Worth CL, Preissner R, Blundell TL. SDM—a server for predicting ...
  • ۲۴.Zambrano R, Jamroz M, Szczasiuk A, Pujols J, Kmiecik S, ...
  • ۲۵.Weber KL, Sokac AM, Berg JS, Cheney RE, Bement WM. ...
  • ۲۶.Van Laer L, Cryns K, Smith RJ, Van Camp G. ...
  • ۲۷.Ari Ş, Arikan M. Next-Generation Sequencing: Advantages, Disadvantages, and Future. ...
  • ۲۸.Yan D, Tekin M, Blanton SH, Liu XZ. Next-generation sequencing ...
  • ۲۹.Well D, Blanchard S, Kaplan J, Guilford P, Gibson F, ...
  • ۳۰.Hartman MA, Spudich JA. The myosin superfamily at a glance. ...
  • ۳۱.Gerber S, Bonneau D, Gilbert B, Munnich A, Dufier J-L, ...
  • ۳۲.Asgharzade S, Reiisi S, Tabatabaiefar MA, Chaleshtori MH. Screening of ...
  • ۳۳.Mermall V, Post PL, Mooseker MS. Unconventional myosins in cell ...
  • ۳۴.Boëda B, El‐Amraoui A, Bahloul A, Goodyear R, Daviet L, ...
  • ۳۵.Reiisi S, Tabatabaiefar MA, Sanati MH, Chaleshtori MH. Screening of ...
  • ۳۶.Planelles-Herrero VJ, Blanc F, Sirigu S, Sirkia H, Clause J, ...
  • ۳۷.Yu I-M, Planelles-Herrero VJ, Sourigues Y, Moussaoui D, Sirkia H, ...
  • ۳۸.Cordes FS, Bright JN, Sansom MS. Proline-induced distortions of transmembrane ...
  • ۳۹.Fukuoka H, Kanda Y, Ohta S, Usami S-i. Mutations in ...
  • ۴۰.Goncalves A, Matos T, Simoes-Teixeira H, Machado MP, Simao M, ...
  • ۴۱.Cryns K, Pfister M, Pennings RJ, Bom SJ, Flothmann K, ...
  • ۴۲.Abdelhak S, Kalatzis V, Heilig R, Compain S, Samson D, ...
  • ۴۳.Xu P-X, Adams J, Peters H, Brown MC, Heaney S, ...
  • ۴۴.Pourquié O. Publisher’s Note: Eya۱ controls cell polarity, spindle orientation, ...
  • ۴۵.Spahiu L, Merovci B, Ismaili Jaha V, Batalli Këpuska A, ...
  • ۴۶.Krug P, Morinière V, Marlin S, Koubi V, Gabriel HD, ...
  • ۴۷.Song MH, Kwon T-J, Kim HR, Jeon JH, Baek J-I, ...
  • ۴۸.Sanggaard KM, Rendtorff ND, Kjaer KW, Eiberg H, Johnsen T, ...
  • ۴۹.Matsunaga T, Okada M, Usami S-I, Okuyama T. Phenotypic consequences ...
  • ۵۰.Kwon M-J, Boo SH, Kwon M-J, Boo SH, Kim H-J, ...
  • ۵۱.Washington NL, Haendel MA, Mungall CJ, Ashburner M, Westerfield M, ...
  • ۵۲.Chen A, Francis M, Ni L, Cremers CW, Kimberling WJ, ...
  • ۵۳.Propst EJ, Blaser S, Gordon KA, Harrison RV, Papsin BC. ...
  • ۵۴.Ou Z, Martin DM, Bedoyan JK, Cooper ML, Chinault AC, ...
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