Table 2 Novel genes
From: ClinPrior: an algorithm for diagnosis and novel gene discovery by network-based prioritization
Gene | Gene name | ID | Inheritance | Nomenclature | Familial/ sporadic | Age at onseta | Spastic paraparesis | Ataxia | Additional features | Validation strategy | |
|---|---|---|---|---|---|---|---|---|---|---|---|
SVBP | Small vasohibin-binding protein | IDSPG8 IDSPG46 | Homozygous Homozygous | p.(Leu49Pro) p.(Leu49Pro) | Familial Familial | 162 | YesNo | NoNo | Intellectual disability Axonal sensorimotor peripheral neuropathy | Transfection assay, Western blot and Immunofluorescence | |
PI4KA | Phosphatidylinositol 4-kinase, catalytic, alpha | IDSPG16 IDSPG149 | Compound Heterozygous Compound Heterozygous | p.(Thr2053SerfsTer4)/ p.(Glu1820del) p.(Val1556Met)/ p.(Thr1720Ile) | Sporadic Sporadic | 173 | YesYes | NoNo | No Learning difficulty | Targeted lipidomics, Western blot and Immunofluorescence [38] | |
SHMT2 | Serine hydroxymethyl transferase, mitochondrial | IDSPG26 | Homozygous | p.(Pro499Ala) | Familial | 1 | Yes | No | Global developmental delay, hypoplastic corpus callosum | Targeted metabolomics and mitochondrial redox metabolism [39] | |
PCYT2 | Phosphate cytidylyltransferase 2, ethanolamine | IDSPG27 | Homozygous | p.(Lys319Asn) | Sporadic | 19 | Yes | Yes | Distal hereditary motor neuropathy | Targeted lipidomics and cDNA analysis [40] | |
UBAP1 | Ubiquitin-associated protein 1 | IDSPG76 | Heterozygous | p.(Phe159Ter) | Familial | 7 | Yes | No | Attention deficit hyperactivity disorder | Truncating variant published with 4 additional families, 3 affected relatives [41] | |
DLG4 | Discs large Maguk scaffold protein 4 | IDSPG109 | Heterozygous | c.1721-1G > A | Sporadic | 1 | Yes | Yes | Learning difficulty, bradykinesia, dystonia, myoclonus | Truncating variant published with 52 additional families [42] | |
SLC35B2 | Solute carrier family 35 (3-prime-phosphoadenosine 5-prime-phosphosulfate transporter), Member B2 | IDLNF68 | Homozygous | c.1224_1225delAG | Sporadic | 0 | Yes | No | Intellectual disability | Truncating variant, validated through qRT-PCR, WB, transfection assay [45] | |