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Townes-Brocks-Syndrome 1

Das Townes-Brocks-Syndrome 1 ist ein autosomal dominantes Fehlbildungssyndrom, welches durch Mutationen im SALL1-Gen ausgelöst wird. Es finden sich vor allem Analatresie, Ohrdysplasie und Fehlbildungen des Daumens. Seltener sind auch Hörstörung, Fehlbildungen der Füße, Nierenfunktionsstörungen, Urogenitale Fehlbildungen und Herzfehler anzutreffen.

Gliederung

Townes-Brocks-Syndrome
SALL1
Townes-Brocks-Branchio-Oto-Renales Syndrome
Townes-Brocks-Syndrome 1
SALL1
Townes-Brocks-Syndrome 2

Referenzen:

1.

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

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2.

Sudo Y et al. (2010) Phenotypic variability in a family with Townes-Brocks syndrome.

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3.

Doray B et al. (1999) Two cases of Townes-Brocks syndrome.

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4.

Powell CM et al. (1999) Townes-Brocks syndrome.

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5.

Newman WG et al. (1997) Townes-Brocks syndrome presenting as end stage renal failure.

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6.

Ishikiriyama S et al. (1996) Townes-Brocks syndrome associated with mental retardation.

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7.

Johnson JP et al. (1996) Three-generation family with resemblance to Townes-Brocks syndrome and Goldenhar/oculoauriculovertebral spectrum.

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8.

Walpole IR et al. (1982) Syndrome of imperforate anus, abnormalities of hands and feet, satyr ears, and sensorineural deafness.

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9.

None (1984) Phenotypic variability in Townes-Brocks syndrome.

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10.

Townes PL et al. (1972) Hereditary syndrome of imperforate anus with hand, foot, and ear anomalies.

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11.

Silver W et al. (1972) The Holt-Oram syndrome with previously undescribed associated anomalies.

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12.

de Vries-Van der Weerd MA et al. (1988) A new family with the Townes-Brocks syndrome.

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13.

Ferraz FG et al. (1989) Townes-Brocks syndrome. Report of a case and review of the literature.

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14.

O'Callaghan M et al. (1990) The Townes-Brocks syndrome.

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15.

Cameron TH et al. (1991) Townes-Brocks syndrome in two mentally retarded youngsters.

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16.

Reid IS et al. (1976) Familial and abnormality.

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17.

Egan EA et al. (1977) Additional experience with routine use of oral kanamycin prophylaxis for necrotizing enterocolitis in infants under 1,500 grams.

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18.

None (1977) More on anal deformities.

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19.

Kurnit DM et al. (1978) Autosomal dominant transmission of a syndrome of anal, ear, renal, and radial congenital malformations.

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20.

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

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21.

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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22.

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

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23.

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

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24.

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

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25.

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

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26.

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

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27.

OMIM.ORG article

Omim 107480 external link
Update: 14. August 2020
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