A commentary on ANKRD11 variants cause variable clinical features associated with KBG syndrome and Coffin–Siris-like syndrome

Recent advances in genomic analyses based on next-generation sequencing (NGS), as represented by whole-exome sequencing (WES), have yielded very powerful tools to analyze the genetic causes of Mendelian diseases in humans. NGS has enabled the identification of the causative genes in many genetic diseases, which occur as sporadic or small family cases.^{1, 2}

The identification of causative genes or pathogenic variants among patients suspected to have genetic diseases has led to clarify the relationship between genetic diseases and the same signaling pathways or protein complexes. For example, the concept that the disease of the same category such as RASopathy is newly established.^{3, 4} In addition, NGS-based analyses have identified pathogenic variants among patients with atypical symptoms. Besides, these analyses have revealed some patients with digenic or trigenic diseases or with pathogenic variants in double genes.^{5, 6}

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