Clinical and Molecular Genetic Characterization of Waardenburg Syndrome | ||
| Egyptian Academic Journal of Biological Sciences. C, Physiology and Molecular Biology | ||
| Article 24, Volume 14, Issue 1, June 2022, Pages 277-292 PDF (542.37 K) | ||
| Document Type: Original Article | ||
| DOI: 10.21608/eajbsc.2022.229309 | ||
| Author | ||
| Ahmed M. Almatrafi | ||
| Department of Biological Science, College of Science, Taibah University Medinah, Saudi Arabia | ||
| Abstract | ||
| Waardenburg syndrome (WS) is a clinically and genetically heterogeneous rare genetic disorder encompassing a wide spectrum of anomalies. WS is divided into four primary categories based on clinical and genetic characteristics. WS exists in an autosomal dominant as well as autosomal recessive form. It is characterized by a range of clinical symptoms including pigmentation anomalies of hair, skin, and iris. In the majority of cases, congenital hearing loss is also present. Dystopia canthorum, limb deformities, and neurological impairment have also been associated with some forms of WS and these clinical impairments are used to classify WS. Up until now, mutations in PAX3, MITF, EDN3, EDNRB, SOX10, and SNAI2 have been reported as the main cause of the disease. In this review, I will provide a brief knowledge about WS and its clinical features, prevalence, and types. In addition, I will summarize up-to-date information about WS-associated genes and their involvement in the disease complexity. | ||
| Keywords | ||
| Waardenburg syndrome; hearing loss; pigmentation; neural crest cells; transcriptional factor | ||
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