ArticleMolecular therapy. Nucleic acids2021
Deciphering the mutational signature of congenital limb malformations.
Article in Molecular therapy. Nucleic acids, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.
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Who cites it
8 citing papers in PubMed.
- UBA2: the gatekeeper of the sumoylation pathway and its multifaceted roles in human diseases and therapeutic prospects.Clinical and experimental medicine · 2026Review
- Molecular Landscape in Limb Anomalies: Diagnostic Yield and New Candidate Genes.Clinical genetics · 2026Article
- The RSPO2 gene is associated with bilateral anterior amelia in Chihuahuas.Mammalian genome : official journal of the International Mammalian Genome Society · 2025Article
- Clinical and genetic analysis in Chinese families with synpolydactyly, and cellular localization of HOXD13 with different length of polyalanine tract.Frontiers in genetics · 2023Article
- Developmental genomics of limb malformations: Allelic series in association with gene dosage effects contribute to the clinical variability.HGG advances · 2022Article
- Landscape of Secondary Findings in Chinese Population: A Practice of ACMG SF v3.0 List.Journal of personalized medicine · 2022Article
- PhenoApt leverages clinical expertise to prioritize candidate genes via machine learning.American journal of human genetics · 2022Article
- Identification of NovelFrontiers in genetics · 2022Article
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Authors and funding
24 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Congenital limb malformations (CLMs) affect 1 in 500 live births. However, the value of exome sequencing (ES) for CLM is lacking. The purpose of this study was to decipher the mutational signature of CLM on an exome level. We enrolled a cohort of 66 unrelated probands (including 47 families) with CLM requiring surgical correction. ES was performed for all patients and available parental samples. A definite molecular diagnosis was achieved in 21 out of 66 (32%) patients. We identified 19 pathogenic or likely pathogenic single-nucleotide variants and three copy number variants, of which 11 variants were novel. We identified four variants of uncertain significance. Additionally, we identified
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