Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Suppressor of fused homolog

The SUFU gene encodes a protein involved in hedgehog signaling pathway. Mutations cause medulloblastoma. Also hopomorphic recessive mutations are described with Joubert syndrome 32.

Genetests:

Clinic Method Carrier testing
Turnaround 5 days
Specimen type genomic DNA
Clinic Method Massive parallel sequencing
Turnaround 25 days
Specimen type genomic DNA
Research Method Genomic sequencing of the entire coding region
Turnaround 25 days
Specimen type genomic DNA

Related Diseases:

Joubert syndrome 32
SUFU

References:

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 [^]
18.

Wikipedia article

Wikipedia EN (SUFU) [^]
Update: April 29, 2019