Table 3.
Genes to be included in Next Generation Sequencing (from [8]) in a child with SRNS
| Gene | Inheritance | Accession no. | Disease |
|---|---|---|---|
| ACTN4∗ | AD | NM_004924 | Familial and sporadic SRNS (usually adult) |
| ADCK4∗ | AR | NM_024876 | SRNS |
| ALG1 | AR | NM_019109 | Congenital disorder of glycosylation |
| ANKFY1 | AR | NM_001330063.2 | Pediatric SRNS |
| ANLN | AD | NM_018685 | FSGS (mainly adult) |
| ARHGAP24 | AD | NM_001025616 | FSGS |
| ARHGDIA | AR | NM_001185078 | CNS |
| AVIL | AR | NM_006576.3 | SRNS |
| CD151 | AR | NM_004357 | NS, pretibial bullous skin lesions, neurosensory deafness, bilateral lacrimal duct stenosis, nail dystrophy, and thalassemia minor |
| CD2AP | AD/AR | NM_012120 | FSGS/SRNS |
| CFH | AR | NM_000186 | MPGN type II + NS |
| CLCN5 | XR | NM_001127898.4 | Dent’s disease ± FSGS ± hypercalcuria and nepthrolithiasis |
| COL4A3∗ | AR | NM_000091 | Alport’s disease/FSGS |
| COL4A4 | AR | NM_000092 | Alport’s disease/FSGS |
| COL4A5∗ | XR | NM_000495 | Alport’s disease/FSGS |
| COQ2 | AR | NM_015697 | Mitochondrial disease/isolated nephropathy |
| COQ6 | AR | NM_182476 | NS ± sensorineural deafness; DMS |
| CRB2∗ | AR | NM_173689 | SRNS |
| CUBN | AR | NM_001081 | Intermittent nephrotic range proteinuria ± with epilepsy |
| DGKE∗ | AR | NM_003647 | Hemolytic-uremic syndrome, SRNS |
| DLC1 | AR | NM_182643.3 | Childhood and adult SSNS and SRNS |
| E2F3 | AD | NM_001949 | FSGS + mental retardation (whole gene deletion) |
| EMP2 | AR | NM_001424 | Childhood-onset SRNS and SSNS |
| FAT1 | AR | NM_005245.4 | Combination of SRNS, tubular ectasia, hematuria, and facultative |
| FN1 | AD? | NM_212482.3 | Fibronectin glomerulopathy |
| GAPVD1 | AR | NM_001282680.3 | Early-onset NS |
| INF2 | AD | NM_022489 | Familial and sporadic SRNS, FSGS-associated Charcot-Marie-Tooth neuropathy |
| ITGA3 | AR | NM_002204 | Congenital interstitial lung disease, nephrotic syndrome, and mild epidermolysis bullosa |
| ITGB4 | AR | NM_000213 | Epidermolysis bullosa and pyloric atresia + FSGS |
| ITSN1 | AR | NM_003024.3 | CNS/SRNS/SSNS (with MCD/FSGS on biopsy) |
| ITSN2 | AR | NM_019595.4 | SSNS/SDNS (with MCD/MPGN on biopsy) |
| KANK1 | AR | NM_015158 | SSNS |
| KANK2 | AR | NM_015493 | SSNS/SDNS ± hematuria |
| KANK4 | AR | NM_181712 | SRNS + hematuria |
| KIRREL1 | AR | NM_018240.7 | SRNS |
| LAGE3 | AR | NM_006014.4 | NS with primary microcephaly |
| LAMA5 | AR | NM_005560.6 | Childhood NS |
| LAMB2∗ | AR | NM_002292 | Pierson syndrome |
| LCAT | AR | NM_000229.2 | Norum disease |
| LMNA | AD | NM_170707 | Familial partial lipodystrophy + FSGS |
| LMX1B∗ | AD | NM_002316 | Nail patella syndrome; also FSGS without extrarenal involvement |
| MAFB | AD | NM_005461.5 | FSGS with Duane retraction syndrome |
| MAGI2 | AR | NM_012301.4 | NS ± neurological impairment |
| MMACHC | AR | NM_015506.3 | Cobalamin C deficiency, TMA, and nephrotic syndrome |
| MYO1E∗ | AR | NM_004998 | Familial SRNS |
| NEU1 | AR | NM_000434.4 | Nephrosialidosis (sialidosis type II + childhood NS) |
| NPHP4 | AR | NM_015102.5 | Nephronophthisis with FSGS and nephrotic range proteinuria |
| NPHS1∗ | AR | NM_004646 | CNS/SRNS |
| NPHS2∗ | AR | NM_014625 | CNS, SRNS |
| NUP85 | AR | NM_024844.5 | SRNS |
| NUP93∗ | AR | NM_014669 | Childhood SRNS |
| NUP107∗ | AR | NM_020401 | Childhood SRNS |
| NUP160 | AR | NM_015231.2 | SRNS |
| NUP205 | AR | NM_015135 | Childhood SRNS |
| NXF5 | XR | NM_032946 | FSGS with co-segregating heart block disorder |
| OCRL∗ | XR | NM_000276 | Dent’s disease-2, Lowe syndrome, ± FSGS, ± nephrotic range proteinuria |
| OSGEP | AR | NM_017807.4 | NS with primary microcephaly |
| PAX2 | AD | NM_003987 | Adult-onset FSGS without extrarenal manifestations |
| PDSS2 | AR | NM_020381 | Leigh syndrome |
| PLCe1 | AR | NM_016341 | CNS/SRNS |
| PMM2 | AR | NM_000303 | Congenital disorder of glycosylation |
| PODXL∗ | AD | NM_005397 | FSGS |
| PTPRO | AR | NM_030667 | NS |
| SCARB2 | AR | NM_005506 | Action myoclonus renal failure syndrome ± hearing loss |
| SGPL1 | AR | NM_003901.4 | Primary adrenal insufficiency and SRNS |
| SMARCAL1 | AR | NM_014140 | Schimke immuno-osseous dysplasia |
| SYNPO | AD | NM_007286 | Sporadic FSGS (promoter mutations) |
| TBC1D8B | XR | NM_017752.3 | Early-onset SRNS with FSGS |
| TNS2 | AR | NM_170754.3 | SSNS/SDNS (with MCD/FSGS/DMS on biopsy) |
| TP53RK | AR | NM_033550.4 | NS with primary microcephaly |
| TPRKB | AR | NM_001330389.1 | NS with primary microcephaly |
| TRPC6∗ | AD | NM_004621 | Familial and sporadic SRNS (mainly adult) |
| TTC21B | AR | NM_024753 | FSGS with tubulointerstitial involvement |
| WDR73 | AR | NM_032856 | Galloway-Mowat syndrome (microcephaly and SRNS) |
| WT1∗ | AD | NM_024426 | Sporadic SRNS (children: may be associated with abnormal genitalia); Denys-Drash and Frasier syndrome |
| XPO5 | AR | NM_020750 | Childhood SRNS |
| ZMPSTE24 | AR | NM_005857 | Mandibuloacral dysplasia with FSGS |
| MYH9 | AD/assoc. | NM_002473 | MYH9-related disease; Epstein and Fechtner syndromes |
| APOL1∗ | G1, G2 risk alleles | NM_003661 | Increased susceptibility to FSGS and ESRD in African Americans, Hispanic Americans and in individuals of African descent |
AD autosomal dominant, AR autosomal recessive, CNS congenital nephrotic syndrome, DMS diffuse mesangial sclerosis, ESRD end-stage renal disease, FSGS focal segmental glomerulosclerosis, MPGN membranoproliferative glomerulonephritis, NS nephrotic syndrome, SDNS steroid-dependent nephrotic syndrome, SRNS steroid resistant nephrotic syndrome, SSNS steroid sensitive nephrotic syndrome*Genes with a likely or known mutation, or a risk allele, in this cohort