ArticleMolecular genetics & genomic medicine2019
Novel heterozygous BPIFC variant in a Chinese pedigree with hereditary trichilemmal cysts.
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 2 papers.
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2 citing papers in PubMed, 2 citations in OpenAlex.
- Article
- Novel heterozygous BPIFC variant in a Chinese pedigree with hereditary trichilemmal cysts.Molecular genetics & genomic medicine · 2019Article
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10 authors at 1 institution in 1 country.
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Abstract
backgroundTrichilemmal cysts (TCs) are common intradermal or subcutaneous cysts, which are commonly sporadic and rarely autosomal dominantly inherited. However, little is known about the disease-determining genes in families with TCs exhibiting Mendelian inheritance.
objectiveThe aim of this study was to identify the causative gene in a family with TCs.
methodsWhole-exome sequencing was performed on a TCs family to identify the candidate gene. Sanger sequencing was conducted to validate the candidate variants and familial segregation.
resultsWe identified the heterozygous variant c.3G>C (p.Met1?) within the BPIFC gene. Sanger sequencing confirmed the cosegregation of this variant with the TCs phenotype in the family by demonstrating the presence of the heterozygous variant in all the 12 affected and absence in all the seven unaffected individuals. This variant was found to be absent in dbSNP141, 1,000 Genomes database and 500 ethnicity matched controls.
conclusionOur results imply that BPIFC is a causative gene in this Chinese family with hereditary TCs. Further studies should be performed to validate the role of BPIFC in the pathogenesis of this disease.
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