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Article

Two novel TCTN2 mutations cause Meckel-Gruber syndrome.

Journal of human genetics - 1 Nov 2020

Zhang Manli, Chang Zhijie, Tian Yaping, Wang Longxia, Lu Yanping

Abstract excerpt

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...

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Identifiers

PMID: 32655147
DOI: 10.1038/s10038-020-0804-0
PMCID: PMC7527272

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