ReviewOrphanet journal of rare diseases2023
Identification of two novel SALL1 mutations in chinese families with townes-brocks syndrome and literature review.
Review in Orphanet journal of rare diseases, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.
What it found
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Who cites it
6 citing papers in PubMed, 6 citations in OpenAlex.
- Townes-Brocks Syndrome as Familial Isolated Bilateral Cup Ear Deformity: A Case Report.Clinical, cosmetic and investigational dermatology · 2026Article
- Townes-Brocks syndrome: genotype-phenotype correlations of SALL1 variants in our series and the literature.European journal of human genetics : EJHG · 2025Article
- Functional analysis of heterozygous variants in the SALL1 gene in 2 children with Townes-Brocks syndrome with FSGS.BMC pediatrics · 2025Article
- Molecular mechanism, diagnosis, and treatment of VACTERL association.Frontiers in pediatrics · 2025Review
- Early increased cell proliferation compensates subsequent hypoplasia of the ossicle.Frontiers in cell and developmental biology · 2025Article
- A novel SALL1 C757T mutation in a Chinese family causes a rare disease --Townes-Brocks syndrome.Italian journal of pediatrics · 2024Article
Corrections and comments
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Authors and funding
8 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundTownes-Brocks syndrome is a rare autosomal dominant genetic syndrome caused by mutations in SALL1. The clinical features of Townes-Brocks syndrome are highly heterogonous. Identification of new SALL1 mutations and study of the relation between SALL1 mutations and clinical features can facilitate diagnosis of Townes-Brocks syndrome.
methodsWe collected clinical data and blood samples of the two patients and their family members for whole-exome sequencing and Sanger sequencing. Prediction analysis of the SALL1variation protein structure was achieved using Alphafold. The clinical materials and gene sequencing results were analyzed. The clinical materials and gene sequencing results were analyzed. The related literature of Townes-Brocks syndrome were searched and the genotype-renal phenotype analysis was performed combined with this two cases.
resultsBased on the clinical features and gene sequencing results, the two patients were diagnosed as Townes-Brocks syndrome. Two novel SALL1 mutations (c.878-887del and c.1240G > T) were identified, both of which were pathogenic mutations. The correlation between genotypes and renal phenotypes in Townes-Brocks syndrome patients caused by SALL1 mutation were summarized.
conclusionThis study identified two novel mutations and provided new insights into the correlation of genotypes and renal phenotypes of Townes-Brocks syndrome.
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