ArticleMolecular genetics & genomic medicine2019
Identification of novel mutations in preaxial polydactyly patients through whole-exome sequencing.
Article in Molecular genetics & genomic medicine, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.
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Who cites it
5 citing papers in PubMed, 10 citations in OpenAlex.
- Novel Pathogenic Biallelic Variants in KIAA0586 Expand the Variant Spectrum of Ciliopathies.Cytoskeleton (Hoboken, N.J.) · 2026Article
- Polydactyly: Clinical and molecular manifestations.World journal of orthopedics · 2023Review
- A novel 1.38-kb deletion combined with a single nucleotide variant in KIAA0586 as a cause of Joubert syndrome.BMC medical genomics · 2023Article
- Identification of the genetic basis of sporadic polydactyly in China by targeted sequencing.Computational and structural biotechnology journal · 2021Article
- Identification of novel mutations in preaxial polydactyly patients through whole-exome sequencing.Molecular genetics & genomic medicine · 2019Article
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Authors and funding
7 authors at 1 institution in 1 country.
Funding
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Abstract
backgroundPolydactyly is one of the most common hereditary limb malformation characterized by additional digits in hands and/or feet. With extra fingers/toes, which could be very problematic, polydactyly patients are usually treated in early childhood by removing of extra digits with surgery. Genetically, polydactyly is caused by mutations of genes that involve in digit formation.
methodsIn the current report, we performed genetic analysis for polydactyly using DNA samples from a cohort of 20 Chinese patients. All patients show preaxial polydactyly in one of their hands.
resultsWith whole-exome sequencing (WES), we have identified two novel heterozygous mutations c.G2844A in GLI3 gene (OMIM 165240) and c.1409_1410del in EVC gene (OMIM 604831). Compound heterozygous mutations that affect KIAA0586 gene (OMIM 610178) are also detected. Proteins encoded by the genes have important roles in primary cilia and regulate sonic hedgehog signaling pathway.
conclusionOur study highlights the important roles of primary cilia in limb development, and helps to further understand the molecular mechanisms for polydactyly formation.
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