Berardinelli-Seip kongenitale Lipodystrophie 2 (Seipin)
Das BSCL2-Gen kodiert ein transmembranöses Protein, Seipin, welches im endoplasmatischen Retikulum eine Bedeutung bei der Bildung von Lipidtröpfchen zu besitzen scheint.Funktionsmindernde Mutationen führen zur autosomal rezessiven generalisierten Lipodystrophie 2, einer neuropathie der Motorneuronen, oder einer spastischen Paraplegie.
Gentests:
Klinisch |
Untersuchungsmethoden |
Familienuntersuchung |
Bearbeitungszeit |
5 Tage |
Probentyp |
genomische DNS |
Verknüpfte Erkrankungen:
Referenzen:
1. |
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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2. |
Cui X et al. (2011) Seipin ablation in mice results in severe generalized lipodystrophy.
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3. |
Ito D et al. (2008) Characterization of seipin/BSCL2, a protein associated with spastic paraplegia 17.
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4. |
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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5. |
Lundin C et al. (2006) Membrane topology of the human seipin protein.
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6. |
Bhayana S et al. (2002) Cardiomyopathy in congenital complete lipodystrophy.
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7. |
Chaudhry R et al. (2013) Re-analysis of an original CMTX3 family using exome sequencing identifies a known BSCL2 mutation.
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8. |
Ionasescu VV et al. (1991) Heterogeneity in X-linked recessive Charcot-Marie-Tooth neuropathy.
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9. |
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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10. |
Brusse E et al. (2009) A novel 16p locus associated with BSCL2 hereditary motor neuronopathy: a genetic modifier?
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11. |
Ito D et al. (2009) Seipinopathy: a novel endoplasmic reticulum stress-associated disease.
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12. |
Ito D et al. (2007) Molecular pathogenesis of seipin/BSCL2-related motor neuron diseases.
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13. |
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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14. |
Auer-Grumbach M et al. (2005) Phenotypes of the N88S Berardinelli-Seip congenital lipodystrophy 2 mutation.
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15. |
Windpassinger C et al. (2004) Heterozygous missense mutations in BSCL2 are associated with distal hereditary motor neuropathy and Silver syndrome.
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16. |
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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17. |
Friguls B et al. () Severe cardiac phenotype of Berardinelli-Seip congenital lipodystrophy in an infant with homozygous E189X BSCL2 mutation.
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18. |
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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19. |
Magré J et al. (2001) Identification of the gene altered in Berardinelli-Seip congenital lipodystrophy on chromosome 11q13.
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20. |
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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21. |
NCBI article
NCBI 26580
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22. |
OMIM.ORG article
Omim 606158
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23. |
Orphanet article
Orphanet ID 119085
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Update: 14. August 2020