Mutations in the CYBA gene identified in this study
| Patient . | Maternal allele . | Amino acid change . | Paternal allele . | Amino acid change . | CGD type . |
|---|---|---|---|---|---|
| 1 | Exons 2-3 deleted (homozygous) | Exons 2-3 deleted (homozygous) | A22° | ||
| 2 | T155 → C (homozygous) | Missense: Leu52 → Pro | T155 → C (homozygous) | Missense: Leu52 → Pro | A22° |
| 3 | C244 deleted3-150 (homozygous) | Frameshift | C244 deleted3-150 (homozygous) | Frameshift | A22° |
| 4 | intron 3 5′ gt → tt (homozygous) | Ssplice mutation | Intron 3 5′ gt → tt (homozygous) | Splice mutation | A22° |
| 5 | G74 → T | Missense: Gly25 → Val | G26 → A | Nonsense: Trp9 → Stop | A22° |
| 6 | C268 → T (homozygous) | Missense: Arg90 → Trp | C268 → T (homozygous) | Missense: Arg90 → Trp | A22° |
| 7 and 7a | Insertion C at C162 | Frameshift | C268 → T | Missense: Arg90 → Trp | A22° |
| 8 | G107 → A | Nonsense: Trp36 → Stop | G70 → A | Missense: Gly24 → Arg | A22° |
| 9 | C354 → A | Ser118 → Arg | C354 → A | Ser118 → Arg | A22° |
| Patient . | Maternal allele . | Amino acid change . | Paternal allele . | Amino acid change . | CGD type . |
|---|---|---|---|---|---|
| 1 | Exons 2-3 deleted (homozygous) | Exons 2-3 deleted (homozygous) | A22° | ||
| 2 | T155 → C (homozygous) | Missense: Leu52 → Pro | T155 → C (homozygous) | Missense: Leu52 → Pro | A22° |
| 3 | C244 deleted3-150 (homozygous) | Frameshift | C244 deleted3-150 (homozygous) | Frameshift | A22° |
| 4 | intron 3 5′ gt → tt (homozygous) | Ssplice mutation | Intron 3 5′ gt → tt (homozygous) | Splice mutation | A22° |
| 5 | G74 → T | Missense: Gly25 → Val | G26 → A | Nonsense: Trp9 → Stop | A22° |
| 6 | C268 → T (homozygous) | Missense: Arg90 → Trp | C268 → T (homozygous) | Missense: Arg90 → Trp | A22° |
| 7 and 7a | Insertion C at C162 | Frameshift | C268 → T | Missense: Arg90 → Trp | A22° |
| 8 | G107 → A | Nonsense: Trp36 → Stop | G70 → A | Missense: Gly24 → Arg | A22° |
| 9 | C354 → A | Ser118 → Arg | C354 → A | Ser118 → Arg | A22° |
CGD = chronic granulomatous disease.
Previously seen in a heterozygous patient.