Acrokeratoelastoidosis (AKE) is a rare autosomal dominant skin disease. This study identified a splicing mutation (1101+1G>A) in the *CCDC91* gene as the cause of AKE in a three-generation Chinese family. Functional analysis showed that this mutation leads to exon 11 skipping, resulting in a 59-amino-acid deletion. This causes distended Golgi cisternae, cytoplasmic vesicle accumulation, and lysosome presence, with tropoelastin accumulation in the Golgi and abnormal extracellular aggregates. The findings indicate that *CCDC91* plays a crucial role in elastin transport.
Publisher
European Journal of Human Genetics
Published On
Apr 16, 2024
Authors
Yunlu Zhu, Yun Bai, Wannian Yan, Ming Li, Fei Wu, Mingyuan Xu, Nanhui Wu, HongSong Ge, Yeqiang Liu
Tags
Acrokeratoelastoidosis
CCDC91
splicing mutation
elastin transport
Golgi abnormalities
lysosomal presence
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