First report of prevalence c.IVS1+1G>A and del (GJB6-13S1854) mutations in Syrian families with non-syndromic sensorineural hearing loss.

@article{Alachkar2017FirstRO,
  title={First report of prevalence c.IVS1+1G>A and del (GJB6-13S1854) mutations in Syrian families with non-syndromic sensorineural hearing loss.},
  author={Walid Al-achkar and Bassel Al-Halabi and Bashar Yousef Ali and Faten Moassass},
  journal={International journal of pediatric otorhinolaryngology},
  year={2017},
  volume={92},
  pages={
          82-87
        }
}
OBJECTIVE Mutations in GJB2 and GJB6 genes are a frequent cause of congenital non-syndromic hearing loss (NSHL). Mutational screening has usually focused on coding region of GJB2 gene. A few studies have been conducted on the non-coding region and exon 1. c.IVS1+1G>A (a splice site mutation in GJB2 gene have been detected as disruptive mutation. Del (GJB6 D13S1830) is found in many populations, but del (GJB6 D13S1854) is reported from a few restricted countries. This study was carried out to… CONTINUE READING
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