Biallelic VPS35L pathogenic variants cause 3C/Ritscher-Schinzel-like syndrome through dysfunction of retriever complex.

Kohji KatoYasuyoshi OkaHideki MuramatsuFilipp F VasilevTakanobu OtomoHisashi OishiYoshihiko KawanoHiroyuki KidokoroYuka NakazawaTomoo OgiYoshiyuki TakahashiShinji Saitoh

Published in: Journal of medical genetics (2019)

Our results suggest that biallelic loss-of-function variants in VPS35L underlies 3C/Ritscher-Schinzel-like syndrome. Furthermore, VPS35L is necessary for autophagic function and essential for early embryonic development. The data presented here provide a new insight into the critical role of the retriever complex in fetal development.

Keyphrases

copy number
intellectual disability
case report
cell death
oxidative stress
electronic health record
gene expression
machine learning
deep learning