0000000000620400
AUTHOR
Ingrid M.b.h. Van De Laar
Biallelic variants in LARS2 and KARS cause deafness and (ovario)leukodystrophy
Supplemental Digital Content is available in the text.
DLG4-related synaptopathy: a new rare brain disorder
Contains fulltext : 245031.pdf (Publisher’s version ) (Closed access) PURPOSE: Postsynaptic density protein-95 (PSD-95), encoded by DLG4, regulates excitatory synaptic function in the brain. Here we present the clinical and genetic features of 53 patients (42 previously unpublished) with DLG4 variants. METHODS: The clinical and genetic information were collected through GeneMatcher collaboration. All the individuals were investigated by local clinicians and the gene variants were identified by clinical exome/genome sequencing. RESULTS: The clinical picture was predominated by early onset global developmental delay, intellectual disability, autism spectrum disorder, and attention deficit-hyp…