A family with Danon disease caused by a splice site mutation in LAMP2 that generates a truncated protein

ConclusionThe mutation did not result in loss of mRNA exons; rather, a 6 ‐nucleotide (two‐codon) insertion, where the latter was a stop codon, leading to early termination of LAMP2 protein translation. The resulting truncated protein lacks an important transmembrane domain, which will impair lysosome/autophagosome fusion, damage autophagy function, and result in the clinical manifestations of Danon disease.

Source: Molecular Genetics & Genomic Medicine - February 3, 2019 Category: Genetics & Stem Cells Authors: Nianwei Zhou, Jie Cui, Weipeng Zhao, Yingying Jiang, Wenqing Zhu, Lu Tang, Xuejie Li, Minmin Sun, Cuizhen Pan, Xianhong Shu Tags: ORIGINAL ARTICLE Source Type: research