Genetic implications in Waardenburg Syndrome
Keywords:
Waardenburg Syndrome, Genetics, Complications, Congenital Deafness, Pigmentary DisorderAbstract
Introduction: Waardenburg syndrome (WS) is a rare genetic disorder that occurs in 1 in every 40 000 inhabitants. It is caused by mutations in some genes. These genetic alterations cause abnormalities in the development of tissues derived from neural cells, producing characteristic phenotypic findings such as light blue iris or iris heterochromia, poliosis and sensorineural hearing loss, among others. Objectives: describe the pathology and genetics of Waardenburg syndrome with diagnostic criteria such as dystopia cantorum, pigmentary anomalies of the iris, hypertelorism and eyebrow conjunction. Methods: a bibliographic review was carried out where information was collected from publications, scientific journals indexed through the search engine in PubMed Scielo and Google Scholar using the research keywords. Development: Waardenburg syndrome is classified into different degrees or types, depending on the symptoms presented by the patient: Type 1: (PAX3 gene, locus 2q35). Conclusions: Based on the information collected from scientific journals, it is confirmed that the inheritance of Waardenburg syndrome is autosomal dominant. In novo cases of this rare syndrome are mentioned in the medical literature, presenting specific characteristics for their detection and classification.
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