Background
Methods
Results
WES analysis
Patient | Gender | Micr. Hematuria | Proteinuria | CRF | Kidney Cysts | ESRD | Renal biopsy result (age range performed) |
---|---|---|---|---|---|---|---|
UCY2069 | Male | YES | YES | YES | YES | YES, dialysis | FSGS – thick GBM (50–55 yrs) |
UCY2075 | Male | YES | YES | YES | YES | YES, transplanted | FSGS - no EM (50–55 yrs) |
UCY2074 | Female | YES | YES | NO | Not known | NO | FSGS (20–25 yrs) |
UCY4041 | Female | YES | YES | NO | NO | NO | FSGS – thinning and thickening of GBM (25–30 yrs) |
Gene | Exon | DNA change | Aminoacid change | SNPs3D | SIFT | POLYPHEN2 | Grantham | Mutation Taster | AlignGVGD | General population |
---|---|---|---|---|---|---|---|---|---|---|
LAMA5
| 30 | c.3728 C > T | p.P1243L | 1.19 | 0.02 (Damaging) | 0.635 (Probably Damaging) | 98 | Disease Causing | C65 (High) | rs756101090 4/84492 (ExAC database) |
LAMB2
| 27 | c.4082 C > G | p.S1361 W | 0.07 | 0.00 (Damaging) | 0.999 (Probably Damaging) | 177 | Disease Causing | C65 (High) | – |
MMP24
| 2 | c.355 G > A | p.G119R | −1.84 | 0.07 (Tolerated) | 0.999 (Probably Damaging) | 125 | Disease Causing | C65 (High) | 3/60382 (ExAC database) |
SYNPO2L
| 3 | c.473 G > A | p.R158H | −0.70 | 0.01 (Damaging) | 0.999 (Probably Damaging) | 29 | Disease Causing | C25 (Medium) | rs200006608 12/9758 (ExAC database) |
NID1
| 14 | c.2809 G > A | p.V937 M | 1.61 | 0.04 (Damaging) | 0.999 (Probably Damaging) | 21 | Polymorphism | C15 (Low) | rs200467845 11/59184 (ExAC database) |
TJP1
| 5 | c.428 G > A | p.R143Q | 1.22 | 0.08 (Tolerated) | 0.999 (Probably Damaging) | 43 | Polymorphism | C35 (Medium) | rs377122303 7/60349 (ExAC database) |
COL4A5
| 26 | c.1960 G > T | p.D654Y | −0.56 | 0.11 (Tolerated) | 0.999 (Probably Damaging) | 160 | Disease Causing | C65 (High) | – |
Family | Gene | Variant | WES result confirmed? | Ref. codon | New codon | Family analysis | Inheritance pattern compatible with AD | General population analysis |
---|---|---|---|---|---|---|---|---|
CY5500 |
LAMA5
| p.P1243L | YES | CCG | CTG | YES | YES | 0/81 0/159a |
COL4A5
| p.D654Y | YES | GAT | TAT | YES | YES | 0/54 0/305a | |
CY5372 |
LAMB2
| p.S1361 W | YES | TCG | TGG | YES | NO | – |
CY5381 |
MMP24
| p.G119R | YES | GGG | GGA | YES | More samples needed | 0/54 |
CY5394 |
SYNPO2L
| p.R158H | YES | CGC | CTG | YES | More samples needed | – |
NID1
| p.V937 M | YES | GTG | GTA | YES | NO | – | |
CY5417 |
TJP1
| p.R143Q | YES | CGG | CAG | YES | NO | – |