Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

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.

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

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2.

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

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3.

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

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4.

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

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5.

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

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6.

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

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7.

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

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8.

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

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9.

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

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10.

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

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11.

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

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12.

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

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13.

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

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14.

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

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15.

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

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16.

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.

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17.

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

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18.

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.

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19.

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

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20.

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

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21.

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

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22.

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

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23.

Orphanet article

Orphanet ID 118451 [^]
24.

NCBI article

NCBI 6299 [^]
25.

OMIM.ORG article

Omim 602218 [^]
26.

Wikipedia article

Wikipedia EN (SALL1) [^]
Update: April 29, 2019