Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
Moldiag Diseases Genes Support Contact

Sal-like protein 1

The SALL1 gene encodes a transcription factor. Mutations cause autosomal dominant Townes-Brocks-Syndrome 1 and Townes-Brocks branchiootorenal-like syndrome.

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
Research Method Multiplex Ligation-Dependent Probe Amplification
Turnaround 25 days
Specimen type genomic DNA

Related Diseases:

Townes-Brocks branchiootorenal-like syndrome
SALL1
Townes-Brocks syndrome 1
SALL1

References:

1.

Serville F et al. (1993) Townes-Brocks syndrome in an infant with translocation t (5;16).

external link
2.

Kiefer SM et al. (2008) SALL1 truncated protein expression in Townes-Brocks syndrome leads to ectopic expression of downstream genes.

external link
3.

Böhm J et al. (2006) SALL1 mutations in sporadic Townes-Brocks syndrome are of predominantly paternal origin without obvious paternal age effect.

external link
4.

Dong PD et al. (2003) Drosophila spalt/spalt-related mutants exhibit Townes-Brocks' syndrome phenotypes.

external link
5.

Kiefer SM et al. (2003) Expression of a truncated Sall1 transcriptional repressor is responsible for Townes-Brocks syndrome birth defects.

external link
6.

Netzer C et al. (2001) SALL1, the gene mutated in Townes-Brocks syndrome, encodes a transcriptional repressor which interacts with TRF1/PIN2 and localizes to pericentromeric heterochromatin.

external link
7.

Nishinakamura R et al. (2001) Murine homolog of SALL1 is essential for ureteric bud invasion in kidney development.

external link
8.

Keegan CE et al. () Townes-Brocks syndrome versus expanded spectrum hemifacial microsomia: review of eight patients and further evidence of a "hot spot" for mutation in the SALL1 gene.

external link
9.

None (2000) SALL1 mutations in Townes-Brocks syndrome and related disorders.

external link
10.

Buck A et al. (2000) Molecular cloning, chromosomal localization, and expression of the murine SALL1 ortholog Sall1.

external link
11.

Marlin S et al. (1999) Townes-Brocks syndrome: detection of a SALL1 mutation hot spot and evidence for a position effect in one patient.

external link
12.

Kohlhase J et al. (1999) Molecular analysis of SALL1 mutations in Townes-Brocks syndrome.

external link
13.

Kohlhase J et al. (1996) Isolation, characterization, and organ-specific expression of two novel human zinc finger genes related to the Drosophila gene spalt.

external link
14.

Gabrielli O et al. (1993) Description of a patient with difficult nosological classification: Goldenhar syndrome or Townes-Brocks syndrome?

external link
15.

Furniss D et al. (2007) Nonsense-mediated decay and the molecular pathogenesis of mutations in SALL1 and GLI3.

external link
16.

Kosaki R et al. (2007) Wide phenotypic variations within a family with SALL1 mutations: Isolated external ear abnormalities to Goldenhar syndrome.

external link
17.

Botzenhart EM et al. (2005) SALL1 mutation analysis in Townes-Brocks syndrome: twelve novel mutations and expansion of the phenotype.

external link
18.

Albrecht B et al. (2004) Atypical phenotype and intrafamilial variability associated with a novel SALL1 mutation.

external link
19.

Surka WS et al. (2001) Unique family with Townes-Brocks syndrome, SALL1 mutation, and cardiac defects.

external link
20.

Engels S et al. (2000) A SALL1 mutation causes a branchio-oto-renal syndrome-like phenotype.

external link
21.

Kohlhase J et al. (1998) Mutations in the SALL1 putative transcription factor gene cause Townes-Brocks syndrome.

external link
22.

Chai L et al. (2006) Transcriptional activation of the SALL1 by the human SIX1 homeodomain during kidney development.

external link
23.

Orphanet article

Orphanet ID 118451 external link
24.

NCBI article

NCBI 6299 external link
25.

OMIM.ORG article

Omim 602218 external link
26.

Wikipedia article

Wikipedia EN (SALL1) external link
Update: Aug. 14, 2020
Copyright © 2005-2020 by Center for Nephrology and Metabolic Disorders, Dr. Mato Nagel, MD
Albert-Schweitzer-Ring 32, D-02943 Weißwasser, Germany, Tel.: +49-3576-287922, Fax: +49-3576-287944
Sitemap | Webmail | Disclaimer | Privacy Issues