Front Cover: The cover image is based on the Research Article Biallelic variants in WARS1 cause a highly variable neurodevelopmental syndrome and implicate a critical exon for normal auditory function by Sheng-Jia Lin et al., https://doi.org/10.1002/humu.24435.

Variant c.1746-20C>G is a hypomorphic allele, associated with LGMD R1 calpain3-related.

This study identified the first patient with NDHSAL caused by an autosomal recessive splicing variant in HECW2 gene. The novel variant in homozygosis (g.197092814_197092824delinsC) produces the elimination of exon 22 (r.3765_3917del) leading to an in-frame deletion of the protein (p.Leu1256_Trp1306del) and a 60% reduction in its expression level.

Rare germline variants in PALB2 and BRCA2 may contribute to chordoma susceptibility

ATP7B traffics to the apical membrane in high copper in polarized epithelia.

Based on the identification of novel variants in aminoacyl-tRNA synthetase (ARS) genes WARS1 and SARS1, the authors define an emerging disease spectrum related to all type 1 ARS genes: aminoacyl-tRNA synthetase-related developmental disorders with or without microcephaly (ARS-DDM).

Homozygous WARS1 variants have been identified in individuals with syndromic neurodevelopmental and hearing phenotypes. Here, we performed functional studies in Caenorhabditis elegans and zebrafish.