Abstract

Hereditary Congenital Facial Paresis (HCFP) is a rare syndrome of isolated facial nerve palsy causing facial asymmetry and ptosis. Many described cases showed an autosomal dominant pattern of inheritance. HOXB1 is the first identified gene in HCFP. This study was aimed to evaluation the effect of a deletion mutation on HOXB1 gene expression in Iranian HCFP patient using Real Time PCR. A large Iranian kindred with overall 5 affected individuals along with their unaffected siblings and parents were recruited. The candidate gene HOXB1 was screened and analyzed. After RNA extraction from blood, cDNA were synthesized according to protocol and Real Time PCR carried out using SYBR®Premix Ex TaqTM II kit. HOXB1 expression level was analyzed by ""CT method. The results of this study demonstrates that expression level of HOXB1 gene in homo and hetero had similar expression. However, no differences expression level of HOXB1 gene were found. Masked-like faces, bilateral facial palsy with variable sensorineural hearing loss, as well as low-set ears and some dysmorphic features were the most remarkable findings in the affected members of the family. Our findings expand the mutational spectrum of HOXB1 involved in HCFP, due to the number of patient that had 7bp mutation did not show any expression change in HOXB1 gene. Investigation of HOXB1 gene expression in larger family might have different results. Copyright © 2017 Oriental Scientific Publishing Company.all rights reserved.