title: High incidence of BSCL2 intragenic recombinational mutation in Peruvian type 2 Berardinelli-Seip syndrome.
abstract: Congenital generalized lipodystrophy (CGL) is a genetically heterogeneous group of disorders characterized by the absence of functional adipose tissue. We identified two pedigrees with CGL in the community of the Mestizo tribe in the northern region of Peru. Five cases, ranging from 15 months to 7 years of age, presented with generalized lipodystrophy, muscular prominence, mild intellectual disability, and a striking aged appearance. Sequencing of the BSCL2 gene, known to be mutated in type 2 CGL (CGL2; Berardinelli-Seip syndrome), revealed a homozygous deletion of exon 3 in all five patients examined, suggesting the presence of a founder mutation. This intragenic deletion appeared to be mediated by recombination between Alu sequences in introns 2 and 3. CGL2 in this population is likely underdiagnosed and undertreated because of its geographical, socio-economic, and cultural isolation.© 2016 Wiley Periodicals, Inc.
authors.affiliation: Faculty of Human Medicine, National University of Piura, Piura, Peru.
authors.forename: Nelson
authors.initials: N
authors.lastname: Purizaca-Rosillo
authors.affiliation: Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, Washington.
authors.forename: Takayasu
authors.initials: T
authors.lastname: Mori
authors.affiliation: Faculty of Human Medicine, Antenor Orrego Private University, Piura, Peru.
authors.forename: Yamali
authors.initials: Y
authors.lastname: Benites-Cóndor
authors.affiliation: Division of Medical Genetics, Department of Medicine, University of Washington, Seattle, Washington.
authors.forename: Fuki M
authors.initials: FM
authors.lastname: Hisama
authors.affiliation: Department of Pathology, University of Washington, Seattle, Washington.
authors.forename: George M
authors.initials: GM
authors.lastname: Martin
authors.affiliation: Department of Pathology, University of Washington, Seattle, Washington.
authors.forename: Junko
authors.initials: J
authors.lastname: Oshima
mesh_terms: D001483:Base Sequence; D002648:Child; D002675:Child, Preschool; D003241:Consanguinity; D005091:Exons; D019066:Facies; D005260:Female; D018703:Founder Effect; D044388:GTP-Binding Protein gamma Subunits / Q000235:genetics*; D056726:Genetic Association Studies; D006801:Humans; D015994:Incidence; D007223:Infant; D052497:Lipodystrophy, Congenital Generalized / Q000175:diagnosis* / Q000235:genetics*; D008297:Male; D009154:Mutation; D010375:Pedigree; D010568:Peru; D010641:Phenotype; D011995:Recombination, Genetic
chemical_list: C432679:BSCL2 protein, human; D044388:GTP-Binding Protein gamma Subunits
keywords: BSCL2; Berardinelli-Seip syndrome; Mendelian disease; congenital generalized lipodystrophy; molecular genetics