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Berardinelli-Seip congenital lipodystrophy

MedGen UID:
945467
•Concept ID:
CN262437
•
Disease or Syndrome
Synonyms: Beradinelli-Seip syndrome; Berardinelli lipodystrophy syndrome; Berardinelli Seip syndrome; Berardinelli-Seip syndrome; Brunzell syndrome; BSCL; CGL; congenital generalised lipodystrophy; Congenital generalized lipodystrophy; congenital generalized lipodystrophy; GCL; generalised congenital lipodystrophy; generalized congenital lipodystrophy; Lawrence-Seip syndrome; lipoatrophic diabetes; Lipoatrophic diabetes; Seip-Bernardinelli syndrome; total lipodystrophy
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
•Concept ID:
C0441748
•
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Autosomal recessive inheritance (Orphanet)
 
Related genes: CAVIN1, BSCL2, AGPAT2, CAV1
 
Monarch Initiative: MONDO:0018883
Orphanet: ORPHA528

Definition

A rare autosomal recessive form of lipodystrophy characterized by the association of generalized lipoatrophy with acromegaloid features, muscle hypertrophy, insulin resistance, hypertriglyceridemia, and liver steatosis. [from ORDO]

Professional guidelines

PubMed

Genotype-phenotype correlations of Berardinelli-Seip congenital lipodystrophy and novel candidate genes prediction.
Ren M, Shi J, Jia J, Guo Y, Ni X, Shi T
Orphanet J Rare Dis 2020 Apr 29;15(1):108. doi: 10.1186/s13023-020-01383-y. PMID: 32349771Free PMC Article
Relative contribution of mutations in genes for autosomal dominant distal hereditary motor neuropathies: a genotype-phenotype correlation study.
Dierick I, Baets J, Irobi J, Jacobs A, De Vriendt E, Deconinck T, Merlini L, Van den Bergh P, Rasic VM, Robberecht W, Fischer D, Morales RJ, Mitrovic Z, Seeman P, Mazanec R, Kochanski A, Jordanova A, Auer-Grumbach M, Helderman-van den Enden AT, Wokke JH, Nelis E, De Jonghe P, Timmerman V
Brain 2008 May;131(Pt 5):1217-27. Epub 2008 Mar 5 doi: 10.1093/brain/awn029. PMID: 18325928
Genotype-phenotype relationships in Berardinelli-Seip congenital lipodystrophy.
Van Maldergem L, Magré J, Khallouf TE, Gedde-Dahl T Jr, Delépine M, Trygstad O, Seemanova E, Stephenson T, Albott CS, Bonnici F, Panz VR, Medina JL, Bogalho P, Huet F, Savasta S, Verloes A, Robert JJ, Loret H, De Kerdanet M, Tubiana-Rufi N, Mégarbané A, Maassen J, Polak M, Lacombe D, Kahn CR, Silveira EL, D'Abronzo FH, Grigorescu F, Lathrop M, Capeau J, O'Rahilly S
J Med Genet 2002 Oct;39(10):722-33. doi: 10.1136/jmg.39.10.722. PMID: 12362029Free PMC Article

Recent clinical studies

Etiology

Genotype-phenotype correlations of Berardinelli-Seip congenital lipodystrophy and novel candidate genes prediction.
Ren M, Shi J, Jia J, Guo Y, Ni X, Shi T
Orphanet J Rare Dis 2020 Apr 29;15(1):108. doi: 10.1186/s13023-020-01383-y. PMID: 32349771Free PMC Article
Impairment of respiratory muscle strength in Berardinelli-Seip congenital lipodystrophy subjects.
Dantas de Medeiros JL, Carneiro Bezerra B, Brito de Araújo TA, Craveiro Sarmento AS, de Azevedo Medeiros LB, Peroni Gualdi L, Luna Cruz MDS, Xavier Nobre TT, Gomes Lima J, Araújo de Melo Campos JT
Respir Res 2018 Sep 12;19(1):173. doi: 10.1186/s12931-018-0879-8. PMID: 30208912Free PMC Article
Causes of death in patients with Berardinelli-Seip congenital generalized lipodystrophy.
Lima JG, Nobrega LHC, Lima NN, Dos Santos MCF, Silva PHD, Baracho MFP, Lima DN, de Melo Campos JTA, Ferreira LC, Freire Neto FP, Mendes-Aguiar CO, Jeronimo SMB
PLoS One 2018;13(6):e0199052. Epub 2018 Jun 8 doi: 10.1371/journal.pone.0199052. PMID: 29883474Free PMC Article
Phenotypes of the N88S Berardinelli-Seip congenital lipodystrophy 2 mutation.
Auer-Grumbach M, Schlotter-Weigel B, Lochmüller H, Strobl-Wildemann G, Auer-Grumbach P, Fischer R, Offenbacher H, Zwick EB, Robl T, Hartl G, Hartung HP, Wagner K, Windpassinger C; Austrian Peripheral Neuropathy Study Group
Ann Neurol 2005 Mar;57(3):415-24. doi: 10.1002/ana.20410. PMID: 15732094
Identification of the gene altered in Berardinelli-Seip congenital lipodystrophy on chromosome 11q13.
Magré J, Delépine M, Khallouf E, Gedde-Dahl T Jr, Van Maldergem L, Sobel E, Papp J, Meier M, Mégarbané A, Bachy A, Verloes A, d'Abronzo FH, Seemanova E, Assan R, Baudic N, Bourut C, Czernichow P, Huet F, Grigorescu F, de Kerdanet M, Lacombe D, Labrune P, Lanza M, Loret H, Matsuda F, Navarro J, Nivelon-Chevalier A, Polak M, Robert JJ, Tric P, Tubiana-Rufi N, Vigouroux C, Weissenbach J, Savasta S, Maassen JA, Trygstad O, Bogalho P, Freitas P, Medina JL, Bonnicci F, Joffe BI, Loyson G, Panz VR, Raal FJ, O'Rahilly S, Stephenson T, Kahn CR, Lathrop M, Capeau J; BSCL Working Group
Nat Genet 2001 Aug;28(4):365-70. doi: 10.1038/ng585. PMID: 11479539

Diagnosis

Berardinelli-Seip Congenital Lipodystrophy - A Case Report and Review of Literature.
Munir A, Haider M, Chachar AZK
J Coll Physicians Surg Pak 2022 Jun;32(6):817-819. doi: 10.29271/jcpsp.2022.06.817. PMID: 35686420
The worldwide mutational landscape of Berardinelli-Seip congenital lipodystrophy.
Craveiro Sarmento AS, Ferreira LC, Lima JG, de Azevedo Medeiros LB, Barbosa Cunha PT, Agnez-Lima LF, Galvão Ururahy MA, de Melo Campos JTA
Mutat Res Rev Mutat Res 2019 Jul-Sep;781:30-52. Epub 2019 Mar 23 doi: 10.1016/j.mrrev.2019.03.005. PMID: 31416577
Berardinelli-Seip Congenital Generalised Lipodystrophy.
Cheema HA, Malik HS, Waheed N, Mushtaq I, Fayyaz Z, Anjum MN
J Coll Physicians Surg Pak 2018 May;28(5):406-408. doi: 10.29271/jcpsp.2018.05.406. PMID: 29690976
Clinical and molecular aspects of Berardinelli-Seip Congenital Lipodystrophy (BSCL).
Gomes KB, Pardini VC, Fernandes AP
Clin Chim Acta 2009 Apr;402(1-2):1-6. Epub 2009 Jan 9 doi: 10.1016/j.cca.2008.12.032. PMID: 19167372
Phenotypes of the N88S Berardinelli-Seip congenital lipodystrophy 2 mutation.
Auer-Grumbach M, Schlotter-Weigel B, Lochmüller H, Strobl-Wildemann G, Auer-Grumbach P, Fischer R, Offenbacher H, Zwick EB, Robl T, Hartl G, Hartung HP, Wagner K, Windpassinger C; Austrian Peripheral Neuropathy Study Group
Ann Neurol 2005 Mar;57(3):415-24. doi: 10.1002/ana.20410. PMID: 15732094

Therapy

Berardinelli-Seip Congenital Lipodystrophy - A Case Report and Review of Literature.
Munir A, Haider M, Chachar AZK
J Coll Physicians Surg Pak 2022 Jun;32(6):817-819. doi: 10.29271/jcpsp.2022.06.817. PMID: 35686420
Impairment of respiratory muscle strength in Berardinelli-Seip congenital lipodystrophy subjects.
Dantas de Medeiros JL, Carneiro Bezerra B, Brito de Araújo TA, Craveiro Sarmento AS, de Azevedo Medeiros LB, Peroni Gualdi L, Luna Cruz MDS, Xavier Nobre TT, Gomes Lima J, Araújo de Melo Campos JT
Respir Res 2018 Sep 12;19(1):173. doi: 10.1186/s12931-018-0879-8. PMID: 30208912Free PMC Article
Resistance to leptin-replacement therapy in Berardinelli-Seip congenital lipodystrophy: an immunological origin.
Beltrand J, Lahlou N, Le Charpentier T, Sebag G, Leka S, Polak M, Tubiana-Rufi N, Lacombe D, de Kerdanet M, Huet F, Robert JJ, Chevenne D, Gressens P, Lévy-Marchal C
Eur J Endocrinol 2010 Jun;162(6):1083-91. Epub 2010 Mar 17 doi: 10.1530/EJE-09-1027. PMID: 20236991

Prognosis

Genotype-phenotype correlations of Berardinelli-Seip congenital lipodystrophy and novel candidate genes prediction.
Ren M, Shi J, Jia J, Guo Y, Ni X, Shi T
Orphanet J Rare Dis 2020 Apr 29;15(1):108. doi: 10.1186/s13023-020-01383-y. PMID: 32349771Free PMC Article
Causes of death in patients with Berardinelli-Seip congenital generalized lipodystrophy.
Lima JG, Nobrega LHC, Lima NN, Dos Santos MCF, Silva PHD, Baracho MFP, Lima DN, de Melo Campos JTA, Ferreira LC, Freire Neto FP, Mendes-Aguiar CO, Jeronimo SMB
PLoS One 2018;13(6):e0199052. Epub 2018 Jun 8 doi: 10.1371/journal.pone.0199052. PMID: 29883474Free PMC Article
A case of Berardinelli-Seip syndrome presenting with cirrhosis.
Wimalaratna H, Nandasiri AS
J R Coll Physicians Edinb 2013;43(4):309-11. doi: 10.4997/JRCPE.2013.406. PMID: 24350312
Early course of Berardinelli-Seip congenital lipodystrophy (BSCL).
Eltermann T, Menendez-Castro C, Kienzle HP, Wössner R, Thomas W
Klin Padiatr 2010 Sep;222(5):308-9. Epub 2010 Mar 18 doi: 10.1055/s-0030-1248282. PMID: 20301053
Higher adiponectin levels in patients with Berardinelli-Seip congenital lipodystrophy due to seipin as compared with 1-acylglycerol-3-phosphate-o-acyltransferase-2 deficiency.
Antuna-Puente B, Boutet E, Vigouroux C, Lascols O, Slama L, Caron-Debarle M, Khallouf E, Lévy-Marchal C, Capeau J, Bastard JP, Magré J
J Clin Endocrinol Metab 2010 Mar;95(3):1463-8. Epub 2010 Jan 22 doi: 10.1210/jc.2009-1824. PMID: 20097706

Clinical prediction guides

Accelerated epigenetic aging and DNA methylation alterations in Berardinelli-Seip congenital lipodystrophy.
Qannan A, Bejaoui Y, Izadi M, Yousri NA, Razzaq A, Christiansen C, Martin GM, Bell JT, Horvath S, Oshima J, Megarbane A, Ericsson J, Pourkarimi E, El Hajj N
Hum Mol Genet 2023 May 18;32(11):1826-1835. doi: 10.1093/hmg/ddad016. PMID: 36715159Free PMC Article
Genotype-phenotype correlations of Berardinelli-Seip congenital lipodystrophy and novel candidate genes prediction.
Ren M, Shi J, Jia J, Guo Y, Ni X, Shi T
Orphanet J Rare Dis 2020 Apr 29;15(1):108. doi: 10.1186/s13023-020-01383-y. PMID: 32349771Free PMC Article
Impairment of respiratory muscle strength in Berardinelli-Seip congenital lipodystrophy subjects.
Dantas de Medeiros JL, Carneiro Bezerra B, Brito de Araújo TA, Craveiro Sarmento AS, de Azevedo Medeiros LB, Peroni Gualdi L, Luna Cruz MDS, Xavier Nobre TT, Gomes Lima J, Araújo de Melo Campos JT
Respir Res 2018 Sep 12;19(1):173. doi: 10.1186/s12931-018-0879-8. PMID: 30208912Free PMC Article
Bone Density in Patients With Berardinelli-Seip Congenital Lipodystrophy Is Higher in Trabecular Sites and in Type 2 Patients.
Lima JG, Nobrega LHC, Lima NN, Dos Santos MCF, Baracho MFP, Bandeira F, Capistrano L, Freire Neto FP, Jeronimo SMB
J Clin Densitom 2018 Jan-Mar;21(1):61-67. Epub 2016 Nov 25 doi: 10.1016/j.jocd.2016.10.002. PMID: 27894728
Resistance to leptin-replacement therapy in Berardinelli-Seip congenital lipodystrophy: an immunological origin.
Beltrand J, Lahlou N, Le Charpentier T, Sebag G, Leka S, Polak M, Tubiana-Rufi N, Lacombe D, de Kerdanet M, Huet F, Robert JJ, Chevenne D, Gressens P, Lévy-Marchal C
Eur J Endocrinol 2010 Jun;162(6):1083-91. Epub 2010 Mar 17 doi: 10.1530/EJE-09-1027. PMID: 20236991

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