.png)
Waardenburg syndrome was fully described by Petrus Johannes Waardenburg (1886 – 1979) a Dutch ophthalmologist and geneticist.
Fig. 1 Petrus Johannes Waardenburg
Waardenburg syndrome is a genetic autosomal disorder characterised by the presence of mutations in genes responsible for the formation of the neural crest during embryonic development.
The majority of the peripheral nervous system (PNS) and several non-neuronal cell types, such as smooth muscle cells of the cardiovascular system, pigment cells in the skin, and craniofacial bones, cartilage, and connective tissue, are all derived from the transient embryonic structure known as the neural crest in vertebrates.
Waardenbrg syndrome has many types that present slight changes between them, but some characteristics are present among all such as:
Congenital hearing loss
Pigmentation deficiency (eyes, hair, skin)
Fig. 2 Main features
Waardenburg syndrome may be diagnosed at birth or in early childhood.
So far 4 types had been described and many subtypes accordingly with the mutated gene.
Fig. 3 Types and subtypes according to the affected gene and location.
References
Wikipedia Contributors. (2022, April 13). Jan van der Hoeve. Wikipedia; Wikimedia Foundation. https://en.wikipedia.org/wiki/Jan_van_der_Hoeve
Saras Dewi. (2017, May 12). waardenburg syndrome famous people. Blogspot.com. http://bouddhismeszen.blogspot.com/2017/05/waardenburg-syndrome-famous-people.html
Schwartz, R. A. (2022, October 10). Genetics of Waardenburg Syndrome: Overview, Gene Mutations. Medscape.com; Medscape. https://emedicine.medscape.com/article/950277-overview
Chen, K., Zong, L., Zhan, Y., Wu, X., Liu, M., & Jiang, H. (2015). Genetic counseling for a three-generation Chinese family with Waardenburg syndrome type II associated with a rare SOX10 mutation. International Journal of Pediatric Otorhinolaryngology, 79(5), 745–748. https://doi.org/10.1016/j.ijporl.2015.03.006
Trabelsi, M., Nouira, M., Maazoul, F., Kraoua, L., Meddeb, R., Ouertani, I., Chelly, I., Benoit, V., Besbes, G., & Mrad, R. (2017). Novel PAX3 mutations causing Waardenburg syndrome type 1 in Tunisian patients. International Journal of Pediatric Otorhinolaryngology, 103, 14–19. https://doi.org/10.1016/j.ijporl.2017.09.029
Hereditary Hearing Impairment with Cutaneous Abnormalities - Scientific Figure on ResearchGate. Available from: https://www.researchgate.net/figure/Subtypes-of-Waardenburg-syndrome-WS-and-affected-genes_tbl2_348086955 [accessed 20 Mar, 2023]
Shakhova O, Sommer L. Neural crest-derived stem cells. 2010 May 4. In: StemBook [Internet]. Cambridge (MA): Harvard Stem Cell Institute; 2008-. Available from: https://www.ncbi.nlm.nih.gov/books/NBK44752/ doi: 10.3824/stembook.1.51.1
Comentários