First preimplantation genetic testing case of Meckel syndrome with a novel homozygous TXNDC15 variant in a non-consanguineous Chinese family,Molecular Genetics & Genomic Medicine

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First preimplantation genetic testing case of Meckel syndrome with a novel homozygous TXNDC15 variant in a non-consanguineous Chinese family
Molecular Genetics & Genomic Medicine ( IF 1.5 ) Pub Date : 2023-12-11 , DOI: 10.1002/mgg3.2340
Huiling Xu ₁ , Jiajie Pu ₂ , Ningjie Yang ₁ , Zhengzhong Wu ₁ , Chanlin Han ₁ , Jilong Yao ₁ , Xuemei Li ₁

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Meckel–Gruber syndrome (MKS) is a perinatally lethal, genetically heterogeneous, autosomal recessive condition caused by defective primary cilium formation. So far, the association of TXNDC15-related MKS has been reported in only five independent families from diverse ethnic origins, including Saudi, Pakistani, Estonian, and Indian. Here, we report a fetus diagnosed with MKS at 12 weeks, exhibiting typical ultrasound findings.

更新日期：2023-12-11

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