A mutation in *CCDC91*, Homo sapiens coiled-coil domain containing 91 protein, cause autosomal-dominant acrokeratoelastoidosis

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.

Yunlu Zhu, Yun Bai, Wannian Yan, Ming Li, Fei Wu, Mingyuan Xu, Nanhui Wu, HongSong Ge, Yeqiang Liu