Table 2.
Summary of genes involved in the etiology of childhood interstitial lung disease.
| GENE | ENCODED PROTEIN | LOCATION | EXON COUNT | MODE OF INHERITANCE | PERIOD OF SYMPTOMS’ ONSET | SEVERITY | OTHER SPECIFIC CHARACTERISTICS |
|---|---|---|---|---|---|---|---|
| ABCA3 | ATP-binding cassette, sub-family A (ABC1), member 3 | 16p13.3 | 33 | AR | Neonatal period to adulthood | Various | - Abnormal surfactant protein - Abnormalities of lamellar bodies |
| SFTPC | Surfactant protein C (SP-C) | 8p21 | 6 | AD | Neonatal period to adulthood | Various | - Abnormal surfactant - I73T (c.218 T > C) is the most prevalent mutation |
| SFTPB | Surfactant protein B (SP-B) | 2p12-p11.2 | 14 | AR | Neonatal early onset | Severe | - SP-B deficiency |
| NKX2-1 | NK2 homeobox 1 (TTF-1: thyroid transcription factor 1) | 14q13 | 3 | AD | Neonatal period to childhood | Various | - A bnormal surfactant protein production - brain-lung-thyroid syndrome |
| FOXF1 | Forkhead box F1 | 16q24 | 2 | AD | Neonatal period | Severe | - Pulmonary hypertension |
|
CSF2RA CSF2RB |
Colony stimulating factor 2 receptor, alpha and beta, low-affinity (granulocyte-macrophage) | Xp22.32 and Yp11.3 22q13.1 |
19 14 |
X-linked AR |
Infants and young children | Progressive | - Familial alveolar proteinosis |
Abbreviations: AR, autosomal recessive; AD, autosomal dominant.