ABCMdb

PMID: 16721150

Nogee LM
Genetics of pediatric interstitial lung disease.
Curr Opin Pediatr. 2006 Jun;18(3):287-92., [PubMed]

Sentences

No. Mutations Sentence Comment

72 ABCA3 p.Glu292Val Three of these patients were found to be compound heterozygotes for two ABCA3 mutations, and all three shared a common ABCA3 mutation, a substitution of valine (V) for glutamic acid (E) in codon 292 (E292V). Login to comment 73 ABCA3 p.Glu292Val Seven additional patients with the E292V mutation were then identified (out of 153 screened), five of whom had a second ABCA3 mutation. Login to comment 107 ABCA3 p.Glu292Val Table 1 Characteristics of lung disease associated with SFTPC or ABCA3 mutations SFTPC ABCA3 Gene locus 8p21 16p13.3 Inheritance Autosomal dominant or sporadic (de-novo mutation) Autosomal recessive Age of onset of symptoms Rare in neonatal period Common in neonatal period Infancy to adult May be asymptomatic Clinical features Tachypnea Hypoxemia in room air Failure to thrive Clubbing Histopathology Alveolar type II cell hyperplasia Foamy macrophages in airspaces Variable amounts of proteinaceous material in airspaces Interstitial thickening Pulmonary fibrosis Electron microscopy Normal lamellar bodies Small, dense lamellar-bodies with eccentrically placed electron-dense bodies ('fried-egg` appearance) Disease mechanism Dominant negative Loss-of-function mutations Toxic gain-of-function Most frequently found mutation I73T E292V Acknowledgements This work was supported by grants from the National Institutes of Health (HL-54703, HL-56387) and by the Eudowood Foundation. Login to comment