TXNDC15 基因中的新型纯合突变导致梅克尔综合征。
Novel homozygous mutations in TXNDC15 causing Meckel syndrome.
机构信息
Reproductive Medical Center, Shenzhen Maternity & Child Healthcare Hospital, Shenzhen, People's Republic of China.
Neonatal Screening Center, Shenzhen Maternity & Child Healthcare Hospital, Shenzhen, People's Republic of China.
出版信息
Mol Genet Genomic Med. 2024 Mar;12(3):e2343. doi: 10.1002/mgg3.2343. Epub 2023 Dec 29.
BACKGROUND
Meckel syndrome (MKS) is the most severe form of an autosomal recessive ciliopathy and is clinically characterized by occipital encephalocele, severely polycystic kidneys, and postaxial polydactyly (toes). The association of TXNDC15-related MKS has been reported. We report the case of a homozygous mutation in the TXNDC15 gene, causing MKS14 in the Chinese population.
METHODS
The fetal skin tissue and parental peripheral blood were retained for whole-exome sequencing and Sanger sequencing, which investigated the potential pathogenic variants associated with MKS.
RESULTS
The fetus was homozygous for a mutation in the TXNDC15 gene (NM_024715.3), specifically c.560delA (p.Asn187llefsTer4), and both parents were heterozygous for this mutation.
CONCLUSION
Our study identified a new mutation that adds to the mutational landscape of MKS, which provide a basis for genetic counseling and the selection of reproductive options.
背景
Meckel 综合征（MKS）是一种常染色体隐性纤毛病中最严重的形式，临床上表现为枕骨脑膨出、严重多囊肾和轴后多指（趾）。已有报道称 TXNDC15 相关的 MKS 存在关联。我们报告了一例中国人群中 TXNDC15 基因突变引起的 MKS14 病例。
方法
保留胎儿皮肤组织和父母外周血进行全外显子组测序和 Sanger 测序，以研究与 MKS 相关的潜在致病变异。
结果
胎儿为 TXNDC15 基因突变的纯合子（NM_024715.3），具体为 c.560delA（p.Asn187llefsTer4），而父母均为该突变的杂合子。
结论
我们的研究发现了一个新的突变，增加了 MKS 的突变景观，为遗传咨询和生殖选择提供了依据。
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