Identification of Pathogenic Variants in RPGRIP1L with Meckel Syndrome and Preimplantation Genetic Testing in a Chinese Family
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DOI: 10.1007/s43032-022-00898-y
Abstract: Meckel syndrome (MKS, OMIM:249000) is a severe multiorgan dysplastic lethal ciliopathy with extreme genetic heterogeneity. Defects in RPGRIP1L are the cause of MKS type 5 (MKS5, OMIM:611561). However, only six different variants have been reported… read more here.
Keywords: meckel syndrome; genetic testing; preimplantation genetic; family ... See more keywords
Meckel syndrome: Clinical and mutation profile in six fetuses
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DOI: 10.1111/cge.13623
Abstract: Meckel syndrome (MKS) is a perinatally lethal, genetically heterogeneous, autosomal recessive condition caused by defective primary cilium formation leading to polydactyly, multiple cysts in kidneys and malformations of nervous system. We performed exome sequencing in… read more here.
Keywords: profile six; mutation profile; clinical mutation; meckel syndrome ... See more keywords
The Meckel syndrome- associated protein MKS1 functionally interacts with components of the BBSome and IFT complexes to mediate ciliary trafficking and hedgehog signaling
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DOI: 10.1371/journal.pone.0173399
Abstract: The importance of primary cilia in human health is underscored by the link between ciliary dysfunction and a group of primarily recessive genetic disorders with overlapping clinical features, now known as ciliopathies. Many of the… read more here.
Keywords: protein; trafficking; meckel syndrome; protein mks1 ... See more keywords
Case Report: Preimplantation Genetic Testing for Meckel Syndrome Induced by Novel Compound Heterozygous Mutations of MKS1
Sign Up to like & getrecommendations! Published in 2022 at "Frontiers in Genetics"
DOI: 10.3389/fgene.2022.843931
Abstract: Meckel syndrome (MKS), also known as the Meckel–Gruber syndrome, is a severe pleiotropic autosomal recessive developmental disorder caused by dysfunction of the primary cilia during early embryogenesis. The diagnostic criteria are based on clinical variability… read more here.
Keywords: preimplantation genetic; mutations mks1; heterozygous mutations; syndrome ... See more keywords