Molekulargenetisches Labor
Zentrum für Nephrologie und Stoffwechsel

Suppressor SUFU

Das SUFU-Gen kodiert ein Protein des Hedgehog-Signalwegs. Mutationen führen zu Medulloblastomem. Auch sind hyopmorphe Mutationen bei Joubert-Syndrom 32 beschrieben.

Gentests:

Klinisch Untersuchungsmethoden Familienuntersuchung
Bearbeitungszeit 5 Tage
Probentyp genomische DNS
Klinisch Untersuchungsmethoden Hochdurchsatz-Sequenzierung
Bearbeitungszeit 25 Tage
Probentyp genomische DNS
Forschung Untersuchungsmethoden Direkte Sequenzierung der proteinkodierenden Bereiche eines Gens
Bearbeitungszeit 25 Tage
Probentyp genomische DNS

Verknüpfte Erkrankungen:

Joubert-Syndrom 32
SUFU

Referenzen:

1.

De Mori R et al. (2017) Hypomorphic Recessive Variants in SUFU Impair the Sonic Hedgehog Pathway and Cause Joubert Syndrome with Cranio-facial and Skeletal Defects.

[^]
2.

Kogerman P et al. (1999) Mammalian suppressor-of-fused modulates nuclear-cytoplasmic shuttling of Gli-1.

[^]
3.

Stone DM et al. (1999) Characterization of the human suppressor of fused, a negative regulator of the zinc-finger transcription factor Gli.

[^]
4.

Bayani J et al. (2000) Molecular cytogenetic analysis of medulloblastomas and supratentorial primitive neuroectodermal tumors by using conventional banding, comparative genomic hybridization, and spectral karyotyping.

[^]
5.

Grimm T et al. (2001) Genomic organization and embryonic expression of Suppressor of Fused, a candidate gene for the split-hand/split-foot malformation type 3.

[^]
6.

Taylor MD et al. (2002) Mutations in SUFU predispose to medulloblastoma.

[^]
7.

Varjosalo M et al. (2006) Divergence of hedgehog signal transduction mechanism between Drosophila and mammals.

[^]
8.

Svärd J et al. (2006) Genetic elimination of Suppressor of fused reveals an essential repressor function in the mammalian Hedgehog signaling pathway.

[^]
9.

Lyle R et al. (2006) Split-hand/split-foot malformation 3 (SHFM3) at 10q24, development of rapid diagnostic methods and gene expression from the region.

[^]
10.

Lee DY et al. (2007) MicroRNA-378 promotes cell survival, tumor growth, and angiogenesis by targeting SuFu and Fus-1 expression.

[^]
11.

Pastorino L et al. (2009) Identification of a SUFU germline mutation in a family with Gorlin syndrome.

[^]
12.

Brugières L et al. (2010) Incomplete penetrance of the predisposition to medulloblastoma associated with germ-line SUFU mutations.

[^]
13.

Pospisilik JA et al. (2010) Drosophila genome-wide obesity screen reveals hedgehog as a determinant of brown versus white adipose cell fate.

[^]
14.

Aavikko M et al. (2012) Loss of SUFU function in familial multiple meningioma.

[^]
15.

NCBI article

NCBI 51684 [^]
16.

OMIM.ORG article

Omim 607035 [^]
17.

Orphanet article

Orphanet ID 119896 [^]
Update: 29. April 2019