First preimplantation genetic testing case of Meckel syndrome with a novel homozygous TXNDC15 variant in a non ‐consanguineous Chinese family

ConclusionThis is the first report of aTXNDC15 variant in the Chinese population and the first PGT case ofTXNDC15-related MKS worldwide. The successful application of PGT-M in this family provides a potential approach for other monogenic diseases. Our case expands the variant spectrum ofTXNDC15 and contributes to the molecular diagnosis and genetic counseling for MKS. This case underscores the importance of appropriate genetic testing methods and accurate genetic counseling in the diagnosis of rare monogenic diseases.

Source: Molecular Genetics & Genomic Medicine - December 11, 2023 Category: Genetics & Stem Cells Authors: Huiling Xu, Jiajie Pu, Ningjie Yang, Zhengzhong Wu, Chanlin Han, Jilong Yao, Xuemei Li Tags: CLINICAL REPORT Source Type: research