Table 2 Candidate genes identified for phenotype association
From: 17q25.3 copy number changes: association with neurodevelopmental disorders and cardiac malformation
Case no. (s) | Literature case(s) | Candidate gene | Gene function and association | Phenotype implicated |
|---|---|---|---|---|
2 | DECIPHER (253687), One case reported by Hackmann et al. (reference no. [7]) | FOXK2 | FOXK2 encodes a protein belonging to the conserved family of forkhead transcription factors that control a wide range of cellular processes, including the cell cycle and development (OMIM* 147685) | NDD |
3 | RBFOX3 | RBFOX3 encodes a member of the RNA-binding FOX protein family which is involved in the regulation of alternative splicing of pre-mRNA (OMIM* 616999) | NDD | |
4 and 5 | OMIM* 613768 | RNF213 | RNF213 encodes a protein that possesses both ubiquitin ligase activity and ATPase activity and is involved in protein–protein interaction. Associated with moyamoya disease 2, susceptibility to, AD, AR (OMIM* 613768) | NDD and CM |
5, 6 and 8 | SEPTIN9 | SEPTIN9 encodes a protein involved in cytokinesis and cell cycle control. Associated with autosomal dominant hereditary neuralgic amyotrophy (OMIM* 604061) | NDD and CM | |
5 and 8 | EXOC7 | EXOC7 encodes a protein that is a component of exocyst family. The exocyst complex plays a critical role in vesicular trafficking and the secretory pathway by targeting post-Golgi vesicles to the plasma membrane. Associated with neurodevelopmental disorder with autosomal recessive seizures and brain atrophy (OMIM* 608163) | NDD and CM | |
10 | Two cases reported by Prost et al. | TBCD | TBCD encodes a protein that modulates microtubule dynamics by capturing GTP-bound TUBB. Associated with autosomal recessive encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum (OMIM* 617193) | Dysmorphic facial features |