The worldwide mutational landscape of Berardinelli-Seip congenital lipodystrophy

Publication date: Available online 23 March 2019Source: Mutation Research/Reviews in Mutation ResearchAuthor(s): Aquiles Sales Craveiro Sarmento, Leonardo Capistrano Ferreira, Josivan Gomes de Lima, Lázaro Batista de Azevedo Medeiros, Patrícia Tainá Barbosa Cunha, Lucymara Fassarella Agnez-Lima, Marcela Abbott Galvão Ururahy, Julliane Tamara Araújo de Melo CamposAbstractBerardinelli-Seip congenital lipodystrophy (BSCL) is a rare disease characterized by the near total absence of body fat at birth. BSCL etiology involves genetic variations in four different genes: AGPAT2, BSCL2, CAV1, and CAVIN1. The four different biochemical subtypes of the disease are distinguished depending on which gene is mutated. The diagnosis of lipodystrophy can be based on clinical criteria, but the gold standard remains genetic testing. Since many different mutations have already been correlated with the onset of the disease, the most indicative method is DNA sequencing. However, not all laboratories have the resources to perform sequencing. Thus, less expensive techniques that include narrow gene regions may be applied. In such cases, the target mutations to be tested must be carefully determined taking into account the frequency of the description of the mutations in the literature, the nationality of the patient, as well as their phenotype. This review considers the molecular basis of BSCL, including the manual count of the majority of mutations reported in the literature up to the year 2018...

Source: Mutation Research Reviews in Mutation Research - March 24, 2019 Category: Genetics & Stem Cells Source Type: research