Berardinelli-Seip congenital lipodystrophy 2 (seipin)
The BSCL2 gene encodes the multi-pass transmembrane protein protein called seipin. Its function is associated with the formation of lipid droplets. Loss-of-function mutations cause autosomal recessive congenital generalized lipodystrophy type 2 or Berardinelli-Seip syndrome, a motor neuropathy, and a spastic paraplegia.
Genetests:
Related Diseases:
References:
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Fu M et al. (2004) Mutations in Gng3lg and AGPAT2 in Berardinelli-Seip congenital lipodystrophy and Brunzell syndrome: phenotype variability suggests important modifier effects.
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Cui X et al. (2011) Seipin ablation in mice results in severe generalized lipodystrophy.
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Ito D et al. (2008) Characterization of seipin/BSCL2, a protein associated with spastic paraplegia 17.
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Szymanski KM et al. (2007) The lipodystrophy protein seipin is found at endoplasmic reticulum lipid droplet junctions and is important for droplet morphology.
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Lundin C et al. (2006) Membrane topology of the human seipin protein.
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Bhayana S et al. (2002) Cardiomyopathy in congenital complete lipodystrophy.
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Chaudhry R et al. (2013) Re-analysis of an original CMTX3 family using exome sequencing identifies a known BSCL2 mutation.
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Ionasescu VV et al. (1991) Heterogeneity in X-linked recessive Charcot-Marie-Tooth neuropathy.
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Windpassinger C et al. (2003) Refinement of the Silver syndrome locus on chromosome 11q12-q14 in four families and exclusion of eight candidate genes.
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Brusse E et al. (2009) A novel 16p locus associated with BSCL2 hereditary motor neuronopathy: a genetic modifier?
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Ito D et al. (2009) Seipinopathy: a novel endoplasmic reticulum stress-associated disease.
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Ito D et al. (2007) Molecular pathogenesis of seipin/BSCL2-related motor neuron diseases.
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van de Warrenburg BP et al. (2006) BSCL2 mutations in two Dutch families with overlapping Silver syndrome-distal hereditary motor neuropathy.
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Auer-Grumbach M et al. (2005) Phenotypes of the N88S Berardinelli-Seip congenital lipodystrophy 2 mutation.
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Windpassinger C et al. (2004) Heterozygous missense mutations in BSCL2 are associated with distal hereditary motor neuropathy and Silver syndrome.
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Auer-Grumbach M et al. (2000) Phenotypic and genotypic heterogeneity in hereditary motor neuronopathy type V: a clinical, electrophysiological and genetic study.
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Friguls B et al. () Severe cardiac phenotype of Berardinelli-Seip congenital lipodystrophy in an infant with homozygous E189X BSCL2 mutation.
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Ebihara K et al. (2004) Gene and phenotype analysis of congenital generalized lipodystrophy in Japanese: a novel homozygous nonsense mutation in seipin gene.
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Magré J et al. (2001) Identification of the gene altered in Berardinelli-Seip congenital lipodystrophy on chromosome 11q13.
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None (1946) Lipodystrophy and hepatomegaly, with diabetes, lipaemia, and other metabolic disturbances; a case throwing new light on the action of insulin.
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NCBI article
NCBI 26580
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OMIM.ORG article
Omim 606158
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Orphanet article
Orphanet ID 119085
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Wikipedia article
Wikipedia EN (BSCL2)
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Update: Aug. 14, 2020