Molekulargenetisches Labor
Zentrum für Nephrologie und Stoffwechsel

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
Klinisch Untersuchungsmethoden Hochdurchsatz-Sequenzierung
Bearbeitungszeit 25 Tage
Probentyp genomische DNS
Klinisch Untersuchungsmethoden Direkte Sequenzierung der proteinkodierenden Bereiche eines Gens
Bearbeitungszeit 25 Tage
Probentyp genomische DNS

Verknüpfte Erkrankungen:

Spastische Paraplegie 17 mit Amyotrophie der Hände und Füße
BSCL2
Hereditäre distale Motorneuronen-Neuropathie Typ 5A
BSCL2
Kongenitale progressive Lipodystrophie Typ 2
BSCL2

Referenzen:

1.

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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2.

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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3.

Magré J et al. (2001) Identification of the gene altered in Berardinelli-Seip congenital lipodystrophy on chromosome 11q13.

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4.

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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5.

Friguls B et al. () Severe cardiac phenotype of Berardinelli-Seip congenital lipodystrophy in an infant with homozygous E189X BSCL2 mutation.

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6.

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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7.

Windpassinger C et al. (2004) Heterozygous missense mutations in BSCL2 are associated with distal hereditary motor neuropathy and Silver syndrome.

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8.

Auer-Grumbach M et al. (2005) Phenotypes of the N88S Berardinelli-Seip congenital lipodystrophy 2 mutation.

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9.

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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10.

Ito D et al. (2007) Molecular pathogenesis of seipin/BSCL2-related motor neuron diseases.

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11.

Ito D et al. (2009) Seipinopathy: a novel endoplasmic reticulum stress-associated disease.

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12.

Brusse E et al. (2009) A novel 16p locus associated with BSCL2 hereditary motor neuronopathy: a genetic modifier?

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13.

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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14.

Ionasescu VV et al. (1991) Heterogeneity in X-linked recessive Charcot-Marie-Tooth neuropathy.

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15.

Chaudhry R et al. (2013) Re-analysis of an original CMTX3 family using exome sequencing identifies a known BSCL2 mutation.

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16.

Bhayana S et al. (2002) Cardiomyopathy in congenital complete lipodystrophy.

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17.

Lundin C et al. (2006) Membrane topology of the human seipin protein.

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18.

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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19.

Ito D et al. (2008) Characterization of seipin/BSCL2, a protein associated with spastic paraplegia 17.

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20.

Cui X et al. (2011) Seipin ablation in mice results in severe generalized lipodystrophy.

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21.

NCBI article

NCBI 26580 [^]
22.

OMIM.ORG article

Omim 606158 [^]
23.

Orphanet article

Orphanet ID 119085 [^]
Update: 9. Mai 2019