Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Townes-Brocks syndrome 1

Townes-Brocks syndrome 1 is an autosomal dominant malformation syndrome which is caused by mutations of the SALL1 gene. The cardinal symptoms include imperforate anus, dysplastic ears, and thumb malformations. Occasionally seen are hearing loss, foot malformations, renal impairment, genitourinary malformations, and congenital heart disease.

Systematic

Townes-Brocks syndrome
SALL1
Townes-Brocks branchiootorenal-like syndrome
Townes-Brocks syndrome 1
SALL1
Townes-Brocks syndrome 2

References:

1.

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

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2.

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

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3.

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

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4.

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

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5.

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

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6.

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

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7.

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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8.

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

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9.

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

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10.

None (1977) More on anal deformities.

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11.

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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12.

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

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13.

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

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14.

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

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15.

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

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16.

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

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17.

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

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18.

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

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19.

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

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20.

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

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21.

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

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22.

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

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23.

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

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24.

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

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25.

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

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26.

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

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Update: Sept. 26, 2018