Table 1.
Recessive EMP2 Mutations Detected in Individuals with NS
| Individual | Ethnic Origin | Parental Consan guinity | Nucleotide Mutationa,b | Alteration in Coding Sequence | Exon (Segregation) | Amino Acid Sequence Conservationc | PolyPhen-2 Score | Age at Onset | Kidney Disease | Age at ESKD | Treatment and Renal Transplantation | Histology (Age) |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A1679-21 | Turkish | yes | c.184C>T | p.Gln62∗ | 4 (hom, M, P) | NA | NA | 2.5 years | SSNS | none at age of > 20 years | CP | ND |
| A1679-22 | Turkish | yes | c.184C>T | p.Gln62∗ | 4 (hom, M, P) | NA | NA | 2 years | SSNS | none at age of > 20 years | CP | ND |
| A150-21 | Turkish | no | c.21C>G | p.Phe7Leu | 2 (het, M) | D. rerio | 1 | <1 year | SSNS | none at age of 5 years | ND | ND |
| c.184C>T | p.Gln62∗ | 4 (het, P) | NA | NA | ||||||||
| A4601-21 | African American | ND | c.28G>A | p.Ala10Thr | 2 (hom, M, ND) | C. intestinalis | 0.753 | 3 years | SRNS | ND | CsA | MCNS (5 years) |
Abbreviations are as follows: CP, cyclophosphamide; CsA, cyclosporine A; ESKD, end-stage kidney disease; het, heterozygous in affected individual; hom, homozygous in affected individual; M, heterozygous mutation identified in mother; MCNS, minimal change nephrotic syndrome; NA, not applicable; ND, no data or DNA available; P, heterozygous mutation identified in father; SRNS, steroid-resistant nephrotic syndrome; and SSNS, steroid-sensitive nephrotic syndrome.
All mutations were absent from >190 ethnically matched healthy control individuals and from >8,600 European control individuals in the NHLBI EVS (see Web Resources).
cDNA mutations are numbered according to human cDNA RefSeq NM_001424.4 (EMP2); +1 corresponds to the A of the ATG translation initiation codon.
The amino acid residue is continually conserved throughout evolution as indicated.