Summary of RPL35A mutations
| Patient . | Inheritance . | DNA change . | Exon . | RNA change . | Predicted protein change . | Sex . | Presenting age, mo . | eADA . | Steroid responsive . | Associated anomalies . |
|---|---|---|---|---|---|---|---|---|---|---|
| Del 1 | Sporadic | Allelic deletion | — | ∼50% transcript | Protein haploinsufficiency | M | 2 | 2.8 | Yes | Hypertelorism, VSD, hypospadias, low-set ears, developmental delay |
| Del 2 | Sporadic | Allelic deletion | — | ∼50% transcript | Protein haploinsufficiency | F | 2 | 3.6 | Yes | Inguinal hernia, pectus excavatum |
| D9 | Sporadic | c.82_84delCTT | 3 | Del 82–84CTT | Del L27 | M | 14 | 1.04 | Yes | None |
| E2 | Sporadic | c.304 C>T | 4 | 304 C>U | R102stop | M | 2 | ND | No | Bilateral duplicated ureters, bilateral duplicated 11th ribs |
| 9 aa C-terminal truncation | ||||||||||
| 019 | Familial | c.97 G>A | 3 | 97 G>A; cryptic exon 3 splice donor | V33I; frameshift following E31 | M | 4 | 0.46 | Yes | Hypospadias, short stature |
| Patient . | Inheritance . | DNA change . | Exon . | RNA change . | Predicted protein change . | Sex . | Presenting age, mo . | eADA . | Steroid responsive . | Associated anomalies . |
|---|---|---|---|---|---|---|---|---|---|---|
| Del 1 | Sporadic | Allelic deletion | — | ∼50% transcript | Protein haploinsufficiency | M | 2 | 2.8 | Yes | Hypertelorism, VSD, hypospadias, low-set ears, developmental delay |
| Del 2 | Sporadic | Allelic deletion | — | ∼50% transcript | Protein haploinsufficiency | F | 2 | 3.6 | Yes | Inguinal hernia, pectus excavatum |
| D9 | Sporadic | c.82_84delCTT | 3 | Del 82–84CTT | Del L27 | M | 14 | 1.04 | Yes | None |
| E2 | Sporadic | c.304 C>T | 4 | 304 C>U | R102stop | M | 2 | ND | No | Bilateral duplicated ureters, bilateral duplicated 11th ribs |
| 9 aa C-terminal truncation | ||||||||||
| 019 | Familial | c.97 G>A | 3 | 97 G>A; cryptic exon 3 splice donor | V33I; frameshift following E31 | M | 4 | 0.46 | Yes | Hypospadias, short stature |
Del indicates deletion; aa, amino acid; eADA, erythrocyte adenosine deaminase activity (IU/g hemoglobin); VSD, ventricular septal defect; ND, not done; and —, not applicable.