Two novel TCTN2 mutations cause Meckel-Gruber syndrome

Meckel-Gruber syndrome (MKS) is a clinically and genetically heterogeneous ciliopathy characterized by a triad of occipital encephalocele, polycystic kidneys, and postaxial polydactyly. Pathogenesis of MKS is related to dysfunction of primary cilia. However, reports on MKS caused by Tectonic2 (TCTN2...

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Bibliographic Details
Published in:Journal of human genetics 2020-11, Vol.65 (11), p.1039-1043
Main Authors: Zhang, Manli, Chang, Zhijie, Tian, Yaping, Wang, Longxia, Lu, Yanping
Format: Article
Language:English
Subjects:
Brief Communication
Cilia
Encephalocele
Epithelial cells
Fetuses
Kidneys
Mutation
Polycystic kidney
Polydactyly
Tubules
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Summary:Meckel-Gruber syndrome (MKS) is a clinically and genetically heterogeneous ciliopathy characterized by a triad of occipital encephalocele, polycystic kidneys, and postaxial polydactyly. Pathogenesis of MKS is related to dysfunction of primary cilia. However, reports on MKS caused by Tectonic2 (TCTN2) mutations are scanty whilst. There is no direct evidence of ciliogenesis in such MKS patients. Here, we identified two novel nonsense variants of TCTN2 (c.343G > T, p.E115*; c.1540C > T, p.Q514*) in a Chinese MKS fetus. Compared to reported TCTN2-causing MKS patients, our case represented an endocardial pad defect, which was not reported previously. We also found primary cilia protruded normally from the surface of epithelial cells in the affected fetal kidney tubules compared to controls, indicating TCTN2 is not necessary for ciliogenesis in the kidney. To our knowledge, this is the first case of MKS fetus caused by TCTN2 mutations from China.
ISSN:1434-5161
1435-232X
DOI:10.1038/s10038-020-0804-0