EBF3-related HADD syndrome is caused by heterozygous deletion at chromosome 10q26 that includes EBF3 or variants in EBF3 that are scattered throughout the gene (NM_001005463.2). These EBF3 variants include missense, nonsense, frameshift, and canonical splice site variants. The syndrome is due to heterozygous loss-of-function mutations in the EBF3 gene. Missense variants may function as dominant-negative mutations. Genetic testing to detect changes in the EBF3 gene include chromosomal microarray, exome sequencing, or selected gene panels.
EBF3