ABCMdb

PMID: 18024538

Doan ML, Guillerman RP, Dishop MK, Nogee LM, Langston C, Mallory GB, Sockrider MM, Fan LL
Clinical, radiological and pathological features of ABCA3 mutations in children.
Thorax. 2008 Apr;63(4):366-73. Epub 2007 Nov 16., [PubMed]

Sentences

No. Mutations Sentence Comment

45 ABCA3 p.Glu292Val ABCA3 p.Glu292Val ABCA3 p.Gln1591Pro ABCA3 p.Arg43His ABCA3 p.Arg208Trp ABCA3 p.Gly210Val ABCA3 p.Thr1114Met ABCA3 p.Met760Arg ABCA3 p.Glu1578Lys ABCA3 p.Arg1550Trp ABCA3 p.Pro1253Ser ABCA3 p.Arg20Leu ABCA3 p.Leu960Ser Five patients eventually Table 1 Characteristics of nine children with ABCA3 mutations Patient no Age of onset, manifestation Clinical features (age at evaluation) CT imaging (age at examination) Mutational analysis Outcomes (current age) 1 Newborn, respiratory failure Ta, Cr, Wh, Cl, Hy (4 years) GGO, ST, PE (2 weeks) Nt622C.T (R208W) Nt2279T.G (M760R) Transplanted (died) (5 years)* 2 Newborn, respiratory failure Ta, Hy (1 month) None Nt289insA Nt4648C.T (R1550W) Transplanted (died) (3 months)* 3 3 months, acute respiratory distress Ta, FTT, Hy (3 months) GGO, ST (3 months) Nt2646insC Nt3757C.T (P1253S) Died (4 months)* 4 2 years, acute respiratory distress Ta, Cr, Cl, FTT, Hy (2 years) GGO, ST, PE (2 years) Nt4732G.A (E1578K) Nt4772A.C (Q1591P) Alive, ILD score 4 (15 years) 5 1 year, recurrent hypoxaemia Ta, Cl, FTT, Hy (3 years) GGO, ST, PE, cysts (2 years) Nt59G.T (R20L) Nt2879T.C (L960S) Alive, ILD score 4 (8 years) 6 Newborn, pneumonia Ta, Cr, Cl, FTT, Hy (10 years) GGO, ST, PE (4 years) Nt875A.T (E292V) Nt3341C.T (T1114M) Transplanted (alive) (12 years)* 7 Newborn, respiratory failure Ta, Cl, FTT (6 years) GGO, ST, PE, cysts (6 years) Nt875A.T (E292V) Nt4706delTCA (deltaI1569) Alive, ILD score 1 (18 years) 8 Newborn, pneumonia Ta, Cr, Cl, Hy (6 years) GGO, PE (6 years) Nt629G.T (G210V) Nt3609delCTT (deltaF1203) Alive, ILD score 3 (11 years) 9 4 years, recurrent hypoxaemia Ta, Cr, Hy (exertional) (8 years) GGO, ST (7 years) Nt128G.A (R43H) Nt1609 in/del (end exon 13) Alive, ILD score 2 (13 years) Ta, tachypnoea; Cr, crackles; Wh, wheezing; Cl, clubbing; Hy, hypoxaemia; FTT, failure to thrive; GGO, ground-glass opacification; ST, septal thickening; PE, pectus excavatum. Login to comment 83 ABCA3 p.Glu292Val ABCA3 p.Gln1591Pro ABCA3 p.Arg20Leu Five of these mutations (R20L, DF1203, E292V, T114M, Q1591P) have been previously identified in subjects with chILD, whereas the remainder are novel. Login to comment 84 ABCA3 p.Glu292Val The E292V mutation was the only one found in more than one patient. Login to comment 149 ABCA3 p.Glu292Val The E292V mutation found in two of our patients has been reported as the most common defect in the ABCA3 gene leading to chILD.20 Our study shows that the outcome in children with ABCA3 mutations is also quite variable. Login to comment