Gap junction beta 2 gene mutation in indonesian patients with non syndromic congenital hearing loss

Devira Zahara, Jenny Bashiruddin, Gino Tann, Delfitri Munir, Nyilo Purnami, Eka Savitri, Rosita Juwita Sembiring, Harmein Nasution

Research output: Contribution to journalArticle

1 Citation (Scopus)

Abstract

Congenital hearing loss is caused by factors during pregnancy and delivery. Congenital deafness may affect speech development, social, cognitive, and academic abilities. More problems may arise if no early detection nor intervention are performed.2-4 Hearing loss in infant and children sometimes are followed by mental underdevelopment, emotional problems, and aphasia. Congenital deafness is commonly detected by family members as delayed speech. In current study, polymorphism of S86T was found in all cases (100%). This polymorphism was also found in all cases of Iranian patients including control patients (Hamid et al). According to Lee et al (1992) from uniprot data, amino acid difference in S86T position was called sequence conflict. Etiological diagnosis of hearing impairment is of great importance to ensure early and adequate management. Even after thorough history taking, clinical and audiometric evaluation, the cause of hearing loss remains unclear in a majority of patients.

Original languageEnglish
Pages (from-to)69-76
Number of pages8
JournalInternational Journal of PharmTech Research
Volume8
Issue number9
Publication statusPublished - 1 Jan 2015

Keywords

  • Gap junction beta 2 gene mutation
  • Hearing loss
  • Indonesian patients
  • Non syndromic congenital hearing loss

Fingerprint Dive into the research topics of 'Gap junction beta 2 gene mutation in indonesian patients with non syndromic congenital hearing loss'. Together they form a unique fingerprint.

  • Cite this

    Zahara, D., Bashiruddin, J., Tann, G., Munir, D., Purnami, N., Savitri, E., Sembiring, R. J., & Nasution, H. (2015). Gap junction beta 2 gene mutation in indonesian patients with non syndromic congenital hearing loss. International Journal of PharmTech Research, 8(9), 69-76.