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Abstract：
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.
CONCLUSIONS: 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.
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.
CONCLUSIONS: 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.
摘要：
背景：Meckel综合征（MKS）是常染色体隐性遗传性纤毛病的最严重形式，其临床特征是枕叶脑膨出，严重的多囊肾,和后轴多指（脚趾）。已经报道了TXNDC15相关MKS的关联。我们报道了TXNDC15基因纯合突变的案例，在中国人口中造成MKS14。
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，研究了与MKS相关的潜在致病变异。
结果：胎儿是TXNDC15基因（NM_024715.3）突变的纯合子，特别是c.560delA（p.Asn187llefsTer4),父母双方都是这种突变的杂合。
结论：我们的研究发现了一种新的突变，增加了MKS的突变景观，这为遗传咨询和生殖选择提供了依据。
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，研究了与MKS相关的潜在致病变异。
结果：胎儿是TXNDC15基因（NM_024715.3）突变的纯合子，特别是c.560delA（p.Asn187llefsTer4),父母双方都是这种突变的杂合。
结论：我们的研究发现了一种新的突变，增加了MKS的突变景观，这为遗传咨询和生殖选择提供了依据。
