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

Conclusion: We reported the clinical, genetic, molecular and histochemical characterisation of a family affected by MKS. Our findings not only extended the mutation spectrum of the TMEM231 gene, but also revealed for the first time the pathological aetiology of primary cilia in humans and provide a basis for genetic counselling of the parents to their offspring.
Source: Frontiers in Genetics - Category: Genetics & Stem Cells Source Type: research