Two novel B9D1 variants causing Joubert syndrome: Utility of mRNA and splicing studies.

This report outlines an interesting case of JS, in which two novel mutations in B9D1 were identified. This gene is not commonly associated with JS, and is often implicated in MKS. Functional mRNA study was helpful in delineating the pathogenic role of novel variants in this case.
PMID: 32622957 [PubMed - as supplied by publisher]

Source: European Journal of Medical Genetics - July 1, 2020 Category: Genetics & Stem Cells Authors: Katiyar D, Anderson N, Bournazos A, Cooper S, Goel H Tags: Eur J Med Genet Source Type: research