Molecular characteristics

Heterozygous frameshift and missense variants have been reported. Loss of function (LoF) is suggested to be the pathological mechanism.
Possible molecular diagnostic approaches to confirm the diagnosis in a proband include:
performing a multi-gene panel, which includes ZBTB7A, or performing exome sequencing, if multiple differential diagnosis exist.
performing ZBTB7A Sanger sequencing (single-gene testing), if the clinical suspicion of ZBTB7A-related syndrome is high.
Parents’ clinical evaluation and targeted genetic testing of identified variant in the ZBTB7A gene is recommended to verify if the pathogenic variant identified in the proband was inherited or occurred de novo.