Identification of novel TMEM231 gene splice variants and pathological findings in a fetus with Meckel Syndrome

Identification of novel TMEM231 gene splice variants and pathological findings in a fetus with Meckel Syndrome

Background: Meckel Syndrome (MKS, OMIM #249000) is a rare and fatal autosomal recessive ciliopathy with high clinical and genetic heterogeneity. MKS shows complex allelism with other related ciliopathies such as Joubert Syndrome (JBTS, OMIM #213300). In MKS, the formation and function of the primary...

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Bibliographic Details
Main Authors: Qian Zhang, Shuya Yang, Xin Chen, Hongdan Wang, Keyan Li, Chaonan Zhang, Shixiu Liao, Litao Qin, Qiaofang Hou
Format: Article
Language:English
Published: Frontiers Media S.A. 2023-09-01
Series:Frontiers in Genetics
Subjects:
Meckel Syndrome
TMEM231 gene
whole exome sequencing
splicing mutation
alternative transcription
primary cilia
Online Access:https://www.frontiersin.org/articles/10.3389/fgene.2023.1252873/full

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https://www.frontiersin.org/articles/10.3389/fgene.2023.1252873/full

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