Rett and Rett ‐like syndrome: Expanding the genetic spectrum to KIF1A and GRIN1 gene

ConclusionsIt is the first time that pathogenic variants ofGRIN1 andKIF1A were linked to RTT and Rett ‐like profiles. Our findings expanded the genetic heterogeneity of Chinese RTT or Rett‐like patients, and also suggest that some patients with genetic metabolic disease such as NCL, might displayed Rett features initially, and clinical follow‐up is essential for the diagnosis.

https://onlinelibrary.wiley.com/doi/abs/10.1002/mgg3.968?af=R

Source: Molecular Genetics & Genomic Medicine - September 10, 2019 Category: Genetics & Stem Cells Authors: Jiaping Wang, Qingping Zhang, Yan Chen, Shujie Yu, Xiru Wu, Xinhua Bao Tags: ORIGINAL ARTICLE Source Type: research