TABLE 1.
The main functions and associated diseases of the 12 genes in the deletion region of 18p identified by WGS.
| Genes | Functions | Diseases |
|---|---|---|
| SMCHD1 | Non-canonical member of the structural maintenance of chromosomes (SMC) protein family, mediating epigenetic silencing by regulating chromatin architecture | Facioscapulohumeral muscular dystrophy 2 (FSHD2) and Bosma arhinia microphthalmia syndrome (BAMS) |
| LPIN2 | Magnesium-dependent phosphatidate phosphatase enzyme, regulating fatty acids metabolism and lipid metabolism | Majeed syndrome (MJDS) |
| TGIF1 | Active transcriptional corepressor of SMAD2, linking the nodal signaling pathway to the bifurcation of the forebrain and the establishment of ventral midline structures | Holoprosencephaly 4 (HPE4) |
| LAMA1 | Mediating the attachment, migration, and organization of cells into tissues during embryonic development by interacting with other extracellular matrix components | Poretti-Boltshauser syndrome (PTBHS) |
| NDUFV2 | Core subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I) | Mitochondrial complex I deficiency, nuclear type 7 (MC1DN7) |
| APCDD1 | Negative regulator of the Wnt signaling pathway, inhibiting Wnt signaling in a cell-autonomous manner | Hypotrichosis 1 (HYPT1) |
| PIEZ O 2 | Component of a mechanosensitive channel required for rapidly adapting mechanically activated (MA) currents | Arthrogryposis, distal (DA), Marden-Walker syndrome (MWKS), and Arthrogryposis, distal, with impaired proprioception and touch (DAIPT) |
| GNAL | Modulators or transducers in various transmembrane signaling systems | Dystonia 25 (DYT25) |
| TUBB6 | Major constituent of microtubules | Facial palsy, congenital, with ptosis and velopharyngeal dysfunction (FPVEPD) |
| AFG3L2 | ATP-dependent protease, mediating axonal and neuron development | Spinocerebellar ataxia 28 (SCA28), Spastic ataxia 5, autosomal recessive (SPAX5), and Optic atrophy 12 (OPA12) |
| PSMG2 | Chaperone protein promoting assembly of the 20S proteasome | Proteasome-associated autoinflammatory syndrome 4 |
| MC2R | Receptor for corticotropin (ACTH) | Glucocorticoid deficiency 1 (GCCD1) |