Townes-Brocks syndrome
Open accessAbstract
Townes-Brocks syndrome (TBS) is an autosomal dominant disorder with multiple malformations and variable expression. Major findings include external ear anomalies, hearing loss, preaxial polydactyly and triphalangeal thumbs, imperforate anus, and renal malformations. Most patients with Townes-Brocks syndrome have normal intelligence, although mental retardation has been noted in a few.
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TBS is caused by heterozygous mutation of SALL1 creating frameshifts and loss of functional domains.
“TBS is caused by heterozygous mutation of SALL1 creating frameshifts and loss of functional domains and leading to a symptomatic triad of anal, thumb and ear malformations”
From Tetramerisation governs SALL transcription factor function in development and disease (2025) · cites this paper as [27]
The Abstract (p. 89) describes TBS as autosomal dominant, and the Selected References cite a study titled “Mutations in the SALL1 putative transcription factor gene cause Townes-Brocks syndrome.” The available text does not state that the mutations are heterozygous or that they cause frameshifts and loss of functional domains. (LLM, conf=0.78)
Experimental — accuracy not yet measuredMutations in SALL1 cause Townes-Brocks syndrome.
“TBS is caused by heterozygous mutation of SALL1 creating frameshifts and loss of functional domains and leading to a symptomatic triad of anal, thumb and ear malformations”
From Tetramerisation governs SALL transcription factor function in development and disease (2025) · cites this paper as [27]
The Selected References list a Kohlhase et al. paper whose title says SALL1 mutations cause Townes-Brocks syndrome, but the available copy of Powell and Michaelis does not state that finding in its own text. Its article body is available only through a PDF link in this copy, so the decisive discussion may be missing; a search for SALL1 mutations and the frameshift mechanism found no further passage. (LLM, conf=0.70)
Experimental — accuracy not yet measured
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Cites
Hereditary syndrome of imperforate anus with hand, foot, and ear anomalies
Townes, P. L., & Brocks, E. R. (1972) · The Journal of Pediatrics · doi:10.1016/s0022-3476(72)80302-0 · Cited by 174 · cited 1× · see citing works
“Townes and Brocks first described the syndrome in 1972.”
Kohlhase, J., Schuh, R., Dowe, G., Kühnlein, R. P., Jäckle, H., Schroeder, B., Schulz-Schaeffer, W., Kretzschmar, H. A., Köhler, A., Müller, U., et al. (1996) · Genomics · doi:10.1006/geno.1996.0631 · Cited by 145 · see citing works
Flagged first, then by citations
Research works printed but not linked: 32
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Tetramerisation governs SALL transcription factor function in development and disease
Giuliani, S., Chhatbar, K., Wear, M., Guy, J., Mathieson, T., Burdett, H., George, L., Alston, G., Spanos, C., McHugh, T., et al. (2025) · bioRxiv · doi:10.1101/2025.10.27.684836
- Authors
- Powell, C. M., & Michaelis, R. C.
- Affiliations
- University of North Carolina at Chapel Hill (US)
- ORCID
- Powell, Cynthia M
- Venue
- Journal of Medical Genetics
- Publisher
- BMJ
- Published
- 1999-02-01
- Volume
- 36
- Issue
- 2
- Pages
- 89-93
- ISSN
- 0022-2593 (ISSN-L)
- 1468-6244
- PMC
- PMC1734298
- OpenAlex
- W2155971558
- Cited by
- 150
- References
- 2
- Citations by year
- 2025: 4 · 2024: 7 · 2023: 3 · 2022: 3 · 2021: 3 · 2020: 3 · 2019: 2 · 2018: 2 · 2017: 4 · 2016: 4 · 2015: 5 · 2014: 7 · 2013: 3 · 2012: 7
- FWCI
- 11.20
- Type
- journal article
- Language
- en
- Open access
- green
- www.ncbi.nlm.nih.gov
- Locations
- Journal of Medical Genetics (publishedVersion)
- PubMed Central (publishedVersion)
- PubMed (publishedVersion)
- PubMed
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Developmental Biology › Congenital limb and hand anomalies
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomics and Rare Diseases
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Craniofacial Disorders and Treatments
- Keywords
- Townes-Brocks syndrome, autosomal dominant disorder, multiple malformations, external ear anomalies, hearing loss, preaxial polydactyly, triphalangeal thumb, imperforate anus, renal anomalies, intellectual disability
- MeSH terms
- Abnormalities, Multiple, Anus, Imperforate, Developmental Disabilities, Chromosomes, Human, Pair 16, Diagnosis, Differential, Ear, External, Eye Abnormalities, Female, Hearing Loss, Sensorineural, Heart Defects, Congenital, Humans, Male, Phenotype, Scoliosis, Syndrome, Transcription Factors, Urogenital Abnormalities, Genetic Variation, Polydactyly
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