title: [Hereditary hypomelanocytoses: the role of PAX3, SOX10, MITF, SNAI2, KIT, EDN3 and EDNRB genes].
abstract: Hypo- and hyperpigmentation disorders are the most severe dermatological diseases observed in patients from all over the world. These disorders can be divided into melanoses connected with disorders of melanocyte function and melanocytoses connected with melanocyte development. The article presents some hereditary hypomelanocytoses, which are caused by abnormal melanoblast development, migration and proliferation as well as by abnormal melanocyte viability and proliferation. These disorders are represented by Waardenburg syndrome, piebaldism and Tietz syndrome, and are caused by different mutations of various or the same genes. The types of mutations comprise missense and nonsense mutations, frameshifts (in-frame insertions or deletions), truncating variations, splice alterations and non-stop mutations. It has been demonstrated that mutations of the same gene may cause different hypopigmentation syndromes that may have similar phenotypes. For example, mutations of the MITF gene cause Waardenburg syndrome type 2A as well as Tietz syndrome. It has also been demonstrated that mutations of different genes may cause an identical syndrome. For example, mutations of MITF, SNAI2 and SOX10 genes are observed in Waardenburg syndrome type II and mutations of EDNRB, EDN3 and SOX10 genes are responsible for Waardenburg syndrome type IV. In turn, mutation of the KIT gene and/or heterozygous deletion of the SNAI2 gene result in piebaldism disease. The knowledge of the exact mechanisms of pigmentary disorders may be useful in the development of new therapeutic approaches to their treatment.
authors.affiliation: Śląski Uniwersytet Medyczny w Katowicach, Wydział Farmaceutyczny z Oddziałem Medycyny Laboratoryjnej, Katedra i Zakład Chemii i Analizy Leków.
authors.forename: Michał
authors.initials: M
authors.lastname: Otręba
authors.affiliation: Śląski Uniwersytet Medyczny w Katowicach, Wydział Farmaceutyczny z Oddziałem Medycyny Laboratoryjnej, Katedra i Zakład Chemii i Analizy Leków.
authors.forename: Maciej
authors.initials: M
authors.lastname: Miliński
authors.affiliation: Śląski Uniwersytet Medyczny w Katowicach, Wydział Farmaceutyczny z Oddziałem Medycyny Laboratoryjnej, Katedra i Zakład Chemii i Analizy Leków.
authors.forename: Ewa
authors.initials: E
authors.lastname: Buszman
authors.affiliation: Śląski Uniwersytet Medyczny w Katowicach, Wydział Farmaceutyczny z Oddziałem Medycyny Laboratoryjnej, Katedra i Zakład Chemii i Analizy Leków.
authors.forename: Dorota
authors.initials: D
authors.lastname: Wrześniok
authors.affiliation: Śląski Uniwersytet Medyczny w Katowicach, Wydział Farmaceutyczny z Oddziałem Medycyny Laboratoryjnej, Katedra i Zakład Chemii i Analizy Leków.
authors.forename: Artur
authors.initials: A
authors.lastname: Beberok
mesh_terms: D016115:Albinism, Oculocutaneous / Q000235:genetics; D003638:Deafness / Q000235:genetics; D019334:Endothelin-3 / Q000378:metabolism*; D006579:Heterozygote; D006801:Humans; D051739:Microphthalmia-Associated Transcription Factor / Q000235:genetics*; D009154:Mutation; D000072041:PAX3 Transcription Factor; D051761:Paired Box Transcription Factors / Q000235:genetics*; D010641:Phenotype; D016116:Piebaldism / Q000235:genetics; D019009:Proto-Oncogene Proteins c-kit / Q000235:genetics*; D044023:Receptor, Endothelin B; D017466:Receptors, Endothelin / Q000378:metabolism*; D055757:SOXE Transcription Factors / Q000235:genetics*; D000071250:Snail Family Transcription Factors; D014157:Transcription Factors / Q000235:genetics*; D014849:Waardenburg Syndrome / Q000145:classification / Q000235:genetics*
chemical_list: C000588595:EDN3 protein, human; C000588596:EDNRB protein, human; D019334:Endothelin-3; C497234:MITF protein, human; D051739:Microphthalmia-Associated Transcription Factor; D000072041:PAX3 Transcription Factor; C489409:PAX3 protein, human; D051761:Paired Box Transcription Factors; D044023:Receptor, Endothelin B; D017466:Receptors, Endothelin; C000604408:SNAI2 protein, human; C527923:SOX10 protein, human; D055757:SOXE Transcription Factors; D000071250:Snail Family Transcription Factors; D014157:Transcription Factors; D019009:Proto-Oncogene Proteins c-kit