Molekulargenetisches Labor
Zentrum für Nephrologie und Stoffwechsel

Sal-ähnliches Protein 1

Das SALL1-Gen kodiert einen Transkriptionsfaktor. Mutationen sind für das autosomal dominante Townes-Brocks-Syndrome 1 und eine Branchio-Oto-Renale Dysplasie-ähnliche Erkrankung verantwortlich.

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
Forschung Untersuchungsmethoden Multiplex ligationsabhängige Amplifikation
Bearbeitungszeit 25 Tage
Probentyp genomische DNS

Verknüpfte Erkrankungen:

Townes-Brocks-Branchio-Oto-Renales Syndrome
SALL1
Townes-Brocks-Syndrome 1
SALL1

Referenzen:

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 [^]
Update: 9. Mai 2019