Homozygous variants in ZSWIM6 cause severe syndromic short stature and developmental delay

The authors aimed to investigate the functional impact of homozygous variants in the ZSWIM6 gene, which they identified in two siblings exhibiting severe syndromic short stature, developmental delay, and specific facial features. Their study revealed that these variants affect transcriptional regulation differently, contributing to the clinical heterogeneity of ZSWIM6-related disorders. This research highlights ZSWIM6 as a crucial transcriptional regulator and provides insights into the genotype-phenotype correlations associated with its mutations.