Higher Adiponectin Levels in Patients with Berardinelli-Seip Congenital Lipodystrophy due to Seipin as compared with 1-Acylglycerol-3-Phosphate-O-Acyltransferase-2 Deficiency
نویسندگان
چکیده
منابع مشابه
Berardinelli-Seip syndrome in a Chinese boy with Seipin gene mutation: a case study and literature review of genotype-phenotype
Objective Congenital generalized lipodystrophy (CGL), or Berardinelli-Seip syndrome, is a rare and heterogeneous disease of autosomal recessive inheritance characterized by the generalized absence of adipose tissue at birth and severe adverse metabolic consequences. The identified causative genes for CGL include 1-acylglycerol-3-phosphate O-acyltransferase 2 (AGPAT2), Berardinelli-Seip congenit...
متن کاملPhenotypes of the N88S Berardinelli-Seip congenital lipodystrophy 2 mutation.
Recently, two missense mutations (N88S, S90L) in the Berardinelli-Seip congenital lipodystrophy gene have been identified in autosomal dominant distal hereditary motor neuropathy and Silver syndrome. We report the phenotypic consequences of the N88S mutation in 90 patients of 1 large Austrian family and two unrelated German families. Variation in the clinical and electrophysiological phenotype ...
متن کاملA Rare case in Indians -- Berardinelli–Seip Congenital Lipodystrophy
Berardinelli–Seip Congenital Lipodystrophy( BSCL) also called Congenital Generalised Lipodystrophy (CGL) is a very rare autosomal recessive metabolic syndrome with a prevalence of less than1 case in 12 million. About 200 cases have been reported so far world-wide. BSCL2 ,the more severe form of the disease with onset in the neonatal period or early infancy is present in Lebanon, Portugal, Norwa...
متن کامل25Hydroxy-vitamin D status in patients with berardinelli-seip syndrome (congenital generalized lipodystrophy)
Lia Beatriz de Azevedo Souza Karbage, Ana Paula Dias Rangel Montenegro, Luciana Felipe Férrer Aragão, Izabella Tamira Galdino Farias Vasconcelos, Virgínia Oliveira Fernandes, Annelise Barreto de Carvalho, Clarisse Mourão Melo Ponte, Catarina Brasil D'Alva, Carla Soraya Costa Maia, Synara Cavalcante Lopes, Marivaldo Loyola Aragão, Carla Antoniana Ferreira de Almeida Vieira, Ana Paula Germano Lop...
متن کاملGenotype-phenotype relationships in Berardinelli-Seip congenital lipodystrophy.
Generalised lipodystrophy of the Berardinelli-Seip type (BSCL) is a rare autosomal recessive human disorder with severe adverse metabolic consequences. A gene on chromosome 9 (BSCL1) has recently been identified, predominantly in African-American families. More recently, mutations in a previously undescribed gene of unknown function (BSCL2) on chromosome 11, termed seipin, have been found to be...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: The Journal of Clinical Endocrinology & Metabolism
سال: 2010
ISSN: 0021-972X,1945-7197
DOI: 10.1210/jc.2009-1824