Table 6.
Molecular findings in T−/+B−NK+SCID.
| Pt No. | Defective gene | Nucleotide change | Protein change | Mutation type | Allele | Carrier status | References | Method | |
|---|---|---|---|---|---|---|---|---|---|
| Mother | Father | ||||||||
| P2 | RAG1 | c.994C>T | p. R331X | Nonsense | Homozygous | Carrier | Carrier | This study | Sanger |
| P18 | RAG2 | c.698G>T | p. G35V | Missense | Homozygous | Carrier | Carrier | (18) | Sanger |
| P24 | RAG2 | c.1321C>T | p. P441S | Missense | Homozygous | ND | Carrier | This study | Sanger |
| P32 | DCLRE1C | c.879G>A | p. W293X | Nonsense | Homozygous | ND | ND | This study | Sanger |
| P35 | RAG2 | c.171delG, | p.K58STer73, | Frameshift | Compound Heterozygous | Carrier | Carrier | This study | Sanger |
| c.104 G>C | p. G35A | Missense | (18) | ||||||
| P38 | RAG1 | c.1201_1216del | p.S401LfsTer6 | Frameshift | Homozygous | Carrier | Carrier | This study | Sanger |
| P42 | RAG1 | c.2146C>T | p. R716W | Missense | Homozygous | Carrier | Carrier | (16) | NGS |
| P43 | RAG2 | c.1247G>T | p.W416L | Missense | Homozygous | Carrier | Carrier | (19) | Sanger |
| P46 | DCLER1C | Del Exon 1-3 | NA | Deletion | Homozygous | ND | ND | (15) | NGS |
| P51 | RAG1 | c.437_438delAG | p.R147SfsTer21 | Deletion | Homozygous | Carrier | Carrier | This study | NGS |
| P57 | RAG1 | c.619 G>A | p.W151X | Nonsense | Homozygous | ND | Carrier | This study | Sanger |
| P16 | RAG1 | c.1441 G>A | p.R474H | Missense | Compound Heterozygous | ND | ND | This study | NGS |
| c.1442 G>A | P.T481C | Missense | (19) | ||||||
RAG1/2, Recombination activating gene1/2; DCLER1C, DNA Cross-Link Repair 1C.