ABCMdb

PMID: 16216835

Deterding R, Fan LL
Surfactant dysfunction mutations in children's interstitial lung disease and beyond.
Am J Respir Crit Care Med. 2005 Oct 15;172(8):940-1., [PubMed]

Sentences

No. Mutations Sentence Comment

91 ABCA3 p.Glu292Val Three of four patients had a common missense ABCA3 mutation (E292V) on one allele and a second unique mutation identified on the other, consistent with an autosomal recessive disorder. Login to comment 92 ABCA3 p.Glu292Val Second, the remaining DNA samples, not positive for other SPB or SPC mutations, were screened for the E292V mutation, with seven more children identified. Login to comment 94 ABCA3 p.Glu292Val Clarifying these issues could have major implications for E292V as a genetic modifier for other pediatric and adult lung diseases. Login to comment 95 ABCA3 p.Glu292Val In this population of children with chronic lung disease, 5% had the common ABCA3 mutation (E292V) in contrast to 14% who had an SPC mutation and 1% who had an SPB mutation. Login to comment 96 ABCA3 p.Glu292Val This likely recognizes only a small fraction of ABCA3 mutations, as only the E292V mutation was screened for and only SPC and SPB genes fully sequenced. Login to comment 99 ABCA3 p.Glu292Val The current age of survival for the E292V group was reported as 6 to 32 years. Login to comment 104 ABCA3 p.Glu292Val However, the identification of a common mutation (E292V) and pathology techniques, such as surfactant protein staining patterns, as reported by Bullard, and electron microscopy to look for abnormal lamellar bodies (5), could provide a starting point. Login to comment