Am J Otolaryngol Head Neck Surg | Volume 6, Issue 7 | Case Report | Open Access
Bhavana K1, Shalini2, Meenakshi T1, Bharti B1 and Saxena AK2*
1Department of Otorhinolaryngology, All India Institute of Medical Sciences, India
2Department of Pathology/Lab Medicine, All India Institute of Medical Sciences, India
*Correspondance to: Ajit K Saxena
Fulltext PDFNeurosensory congenital deafness in non-syndromic cases occurs due to the mutation (235delC) of Connexin 26 gene (GJB2) and is mapped at chromosome 13q11-q12 that encodes large family protein involved in the formation gap junction. Earlier study shows genetic diversity in the frequency of 235delC between Asians, Caucasians populations. Present study of connexin 26 mutations were carried out in clinically diagnosed families and individuals which totals consisted of total n=17 that included, father (four), mother (four) and siblings (seven including male & female). PCR based study on agarose (1.5%) gel showed the disappearance of Cx48/Cx1040L (1000bp) and GJB2 (900bp) band in father (one family) and lacked in both mother and off springs. These findings reflect that congenital hearing loss (25%) of the offspring is paternal in origin in non-syndromic cases. Since, this is a developmental defect, curiosity has been generated to analyze pluripotent stem cell Oct4, Nanog and Sox4 marker using PCR technique with specific forward /reverse primers and again showing disappearance of band Oct4 (577bp) and Sox9A (823bp) in father of the same family, suggesting failure to maintain pluripotency during organogenesis.
Connexin 26 gene; Stem cell marker; Oct4 and Sox9A and Non-syndromic cases
Bhavana K, Shalini, Meenakshi T, Bharti B, Saxena AK. Paternal Disorder of Connexin 26 Gene Mutation Increase Risk of Developing Sensory Loss in Non-Syndromic Offspring: An Interesting Case Study. Am J Otolaryngol Head Neck Surg. 2023; 6(7): 1254..