Abstract:Background
Both Pierson syndrome (PS) and isolated nephrotic syndrome can be caused by LAMB2 biallelic pathogenic variants. Only 15 causative splicing variants in the LAMB2 gene have been reported. However, the pathogenicity of most of these variants has not been verified, which may lead to incorrect interpretation of the functional consequence of these variants.
Methods
Using high‐throughput DNA sequencing and Sanger sequencing, we detected variants in a female with clinically suspected PS. A minigene splicin… Show more
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