Molekulargenetisches Labor
Zentrum für Nephrologie und Stoffwechsel
Moldiag Erkrankungen Gene Support Kontakt

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.

Fu M et al. (2004) Mutations in Gng3lg and AGPAT2 in Berardinelli-Seip congenital lipodystrophy and Brunzell syndrome: phenotype variability suggests important modifier effects.

external link
2.

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

external link
3.

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

external link
4.

Szymanski KM et al. (2007) The lipodystrophy protein seipin is found at endoplasmic reticulum lipid droplet junctions and is important for droplet morphology.

external link
5.

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

external link
6.

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

external link
7.

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

external link
8.

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

external link
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.

external link
10.

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

external link
11.

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

external link
12.

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

external link
13.

van de Warrenburg BP et al. (2006) BSCL2 mutations in two Dutch families with overlapping Silver syndrome-distal hereditary motor neuropathy.

external link
14.

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

external link
15.

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

external link
16.

Auer-Grumbach M et al. (2000) Phenotypic and genotypic heterogeneity in hereditary motor neuronopathy type V: a clinical, electrophysiological and genetic study.

external link
17.

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

external link
18.

Ebihara K et al. (2004) Gene and phenotype analysis of congenital generalized lipodystrophy in Japanese: a novel homozygous nonsense mutation in seipin gene.

external link
19.

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

external link
20.

None (1946) Lipodystrophy and hepatomegaly, with diabetes, lipaemia, and other metabolic disturbances; a case throwing new light on the action of insulin.

external link
21.

NCBI article

NCBI 26580 external link
22.

OMIM.ORG article

Omim 606158 external link
23.

Orphanet article

Orphanet ID 119085 external link
Update: 14. August 2020
Copyright © 2005-2020 Zentrum für Nephrologie und Stoffwechsel, Dr. Mato Nagel
Albert-Schweitzer-Ring 32, D-02943 Weißwasser, Deutschland, Tel.: +49-3576-287922, Fax: +49-3576-287944
Seitenüberblick | Webmail | Haftungsausschluss | Datenschutz