Department of Central Laboratory, Ningde Municipal Hospital, Fujian Medical University, Ningde, Fujian, China.
Department of Clinical Laboratory, Ningde Municipal Hospital, Fujian Medical University, Ningde, Fujian, China.
Mol Genet Genomic Med. 2019 Jun;7(6):e697. doi: 10.1002/mgg3.697. Epub 2019 Apr 29.
Trichilemmal 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.
The aim of this study was to identify the causative gene in a family with TCs.
Whole-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.
We 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.
Our 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.
毛母质瘤（TCs）是常见的真皮内或皮下囊肿，通常为散发性，很少为常染色体显性遗传。然而，对于表现为孟德尔遗传的 TCs 家系中致病基因知之甚少。
本研究旨在鉴定一个 TCs 家系的致病基因。
对一个 TCs 家系进行全外显子组测序，以鉴定候选基因。对候选变异进行 Sanger 测序，以验证其在家族中的共分离和遗传方式。
我们发现 BPIFC 基因中的杂合变异 c.3G>C（p.Met1?）。Sanger 测序证实了该变异与家族中 TCs 表型的共分离，该变异存在于所有 12 个受累个体中，而不存在于所有 7 个未受累个体中。该变异在 dbSNP141、1000 Genomes 数据库和 500 个匹配的对照中均不存在。
我们的结果表明，BPIFC 是这个中国遗传性 TCs 家系的一个致病基因。应进一步开展研究以验证 BPIFC 在该疾病发病机制中的作用。
