ABCMdb

ABCA3 p.Arg43His

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Publications

PMID: 22337229 [PubMed] Agrawal A et al: "An intronic ABCA3 mutation that is responsible for respiratory disease."

No. Sentence Comment

84 Mutation associated with disease in other patients, lung histopathology Alive with ILD I Caucasian Newborn, RDS p.R43H IVS25-98T Mutation associated with disease in other patients, lung histopathology Alive with ILD J African American ILD p.R280C ? Login to comment

PMID: 18024538 [PubMed] Doan ML et al: "Clinical, radiological and pathological features of ABCA3 mutations in children."

No. Sentence Comment

45 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

PMID: 24871971 [PubMed] Wambach JA et al: "Genotype-phenotype correlations for infants and children with ABCA3 deficiency."

No. Sentence Comment

109 Seven unrelated individuals from diverse ethnic and geographic origins had a mutation in codon 43 (p.R43C, p.R43H, and p.R43L, Subjects 92 and 93 [siblings], 101, 104, 105, 118, 173, 174) and these mutations have been reported in other ABCA3-deficient patients from diverse geographic locations (12, 28, 29), suggesting that this codon may be particularly susceptible to mutation. Login to comment