Article
A novel mutation in the PAX3 gene causes Waardenburg syndrome type I in an Iranian family.
International journal of pediatric otorhinolaryngology - 1 Oct 2015
Jalilian Nazanin, Tabatabaiefar Mohammad Amin, Farhadi Mohammad, Bahrami Tayyeb, Noori-Daloii Mohammad Reza
Abstract excerpt
OBJECTIVES: Sensorineural hearing impairment (HI) is one of the most frequent congenital defects, with a prevalence of 1 in 500 among neonates. Although there are over 400 syndromes involving HI, most cases of HI are nonsyndromic (70%), 20% of which follow autosomal dominant mode of inheritance. Waardenburg syndrome (WS) ranks first among autosomal dominant syndromic forms of HI. WS is characterized by...
Topics
- DNA Mutational Analysis
- Exons
- Female
- Genotype
- Humans
- Iran
- Male
- Mutation
- PAX3 Transcription Factor
- Paired Box Transcription Factors
- Pedigree
- Phenotype
- Waardenburg Syndrome