An unstable variant of GAP43 leads to neurodevelopmental deficiency.

Growth-associated protein 43 (GAP43) is a membrane-associated phosphoprotein predominantly expressed in the nervous systems, and controls axonal growth, branching, and pathfinding. While the association between GAP43 and human neurological disorders have been reported, the underlying mechanisms remain largely unknown. We performed whole exome sequencing on a patient with intellectual disability (ID), neurodevelopmental disorders, short stature, and skeletal abnormalities such as left-right difference in legs and digital deformities, and identified a heterozygous missense variation in the GAP43 gene [NM_001130064.

Temple Syndrome: Comprehensive Clinical Study in Genetically Confirmed 60 Japanese Patients.

Objective: Temple syndrome (TS14) is a rare 14q32.2-related imprinting disorder. Here, we report comprehensive clinical findings in TS14.

Loss of function in causes DNA methylation signature similar to that in Wolf-Hirschhorn syndrome.

Purpose: Wolf-Hirschhorn syndrome (WHS), a contiguous gene syndrome caused by heterozygous deletions of the distal short arm of chromosome 4 that includes , reportedly causes specific DNA methylation signatures in peripheral blood cells. However, the genomic loci responsible for these signatures have not been elucidated. The present study aims to define the loci underlying WHS-related DNA methylation signatures and explore the role of in these signatures.