کد مقاله | کد نشریه | سال انتشار | مقاله انگلیسی | نسخه تمام متن |
---|---|---|---|---|
5714762 | 1605972 | 2017 | 4 صفحه PDF | دانلود رایگان |
عنوان انگلیسی مقاله ISI
MYO15A splicing mutations in hearing loss: A review literature and report of a novel mutation
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کلمات کلیدی
موضوعات مرتبط
علوم پزشکی و سلامت
پزشکی و دندانپزشکی
بیماری های گوش و جراحی پلاستیک صورت
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چکیده انگلیسی
Sensorineural hearing loss (SNHL) is the most prevalent genetic sensory defect in humans, affecting about 1 in 1000 newborns around the world. Non-syndromic SNHL accounts for nearly 70% of hereditary hearing loss and 80% of SNHL cases show an autosomal recessive mode of inheritance (ARNSHL). In the present study, we applied targeted-exome sequencing to a family with a single proband affected by congenital sensorineural hearing loss. 127 known genes were sequenced to find the causative mutation. One novel homozygous donor splice site mutation, c.4596Â +Â 1GÂ >Â A (IVS12Â +Â 1GÂ >Â A) was found in MYO15A gene. Analysis of this mutation within the family showed that the mutation segregates with hearing loss. New DNA sequencing technologies could lead to identification of the disease causing variants especially in highly heterogeneous disorders such as hearing loss.
ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: International Journal of Pediatric Otorhinolaryngology - Volume 96, May 2017, Pages 35-38
Journal: International Journal of Pediatric Otorhinolaryngology - Volume 96, May 2017, Pages 35-38
نویسندگان
Mahsa Motavaf, Mahdieh Soveizi, Majid Maleki, Nejat Mahdieh,