ABCMdb

ABCA3 p.Arg1583Trp

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Publications

PMID: 22068586 [PubMed] Flamein F et al: "Molecular and cellular characteristics of ABCA3 mutations associated with diffuse parenchymal lung diseases in children."

No. Sentence Comment

41 Analysis of genomic DNA from the parents and kindred showed that the compound heterozygous p.R1583W/ p.S128Rfs (Fig. 1A) and p.R208W/p.R1521W (Fig. 1B) mutations were inherited, as well as the homozygous mutations p.T1173R (Fig. 1C) and p.D253H (Fig. 1D). Login to comment
54 Genetic analysis results in the 10 children harboring homozygous and compound heterozygous (shaded) or heterozygous ABCA3 mutations Patient NRD Clinical outcome ABCA3 mutation ABCA3 SNPs ABCA3 variants cDNA level Protein level dbSNPs rs# cluster id Missense variants in conserved amino acid 1 Yes ILD c.[3518C.G] + [3518C.G] p.[T1173R] + [T1173R] rs149532, rs13332514 2 Yes ILD c.[757G.C] + [757G.C] p.[D253H] + [D253H] 3 Yes Death c.[1385T.G] + [2890G.A] p.[L462R] + [G964S] rs149532 4 Yes Death c.[4747C.T] + c.[384delC] p.[R1583W] + p.[S128Rfs] rs149532 c.[450G.A] (het) 5 No Death c.[629G.T] + [3079G.C] p.[G210V] + [A1027P] rs149532 6 Yes ILD c.[622C.T] + [4561C.T] p.[R208W] + [R1521W] rs149532, rs323043 7 Yes Death c.[604G.C] + [907C.G] p.[G202R] + [L303V] rs149532, rs323043 (het), rs13332514 8 Yes Death c.[2888A.G] + [?] Login to comment
68 Pedigree of the families with the ABCA3 mutations p.R1583W/p.S128Rfs (A), p.R1521W/R208W (B), p.T1173R/p.T1173R (C) and p.D253H/ p.T1173R (D). Login to comment
79 BALF analysis Western blot analysis of surfactant proteins (Fig. 4) was performed in seven patients, who had the following ABCA3 mutations: p.D253H (patient 2), p.T1173R (patient 1), p.L462R/ p.G964S (patient 3), p.G202R/p.L303V (patient 7), p.Y963C (patient 8), p.R1583W/p.S128Rfs (patient 4) and p.S872G (patient 10), respectively. Login to comment
132 Finally, parents heterozygous for the p.R1583W, p.S128Rfs, p.R1521W or p.R208V mutations were not affected. Login to comment
43 Analysis of genomic DNA from the parents and kindred showed that the compound heterozygous p.R1583W/ p.S128Rfs (Fig. 1A) and p.R208W/p.R1521W (Fig. 1B) mutations were inherited, as well as the homozygous mutations p.T1173R (Fig. 1C) and p.D253H (Fig. 1D). Login to comment
56 Genetic analysis results in the 10 children harboring homozygous and compound heterozygous (shaded) or heterozygous ABCA3 mutations Patient NRD Clinical outcome ABCA3 mutation ABCA3 SNPs ABCA3 variants cDNA level Protein level dbSNPs rs# cluster id Missense variants in conserved amino acid 1 Yes ILD c.[3518C.G] + [3518C.G] p.[T1173R] + [T1173R] rs149532, rs13332514 2 Yes ILD c.[757G.C] + [757G.C] p.[D253H] + [D253H] 3 Yes Death c.[1385T.G] + [2890G.A] p.[L462R] + [G964S] rs149532 4 Yes Death c.[4747C.T] + c.[384delC] p.[R1583W] + p.[S128Rfs] rs149532 c.[450G.A] (het) 5 No Death c.[629G.T] + [3079G.C] p.[G210V] + [A1027P] rs149532 6 Yes ILD c.[622C.T] + [4561C.T] p.[R208W] + [R1521W] rs149532, rs323043 7 Yes Death c.[604G.C] + [907C.G] p.[G202R] + [L303V] rs149532, rs323043 (het), rs13332514 8 Yes Death c.[2888A.G] + [?] Login to comment
70 Pedigree of the families with the ABCA3 mutations p.R1583W/p.S128Rfs (A), p.R1521W/R208W (B), p.T1173R/p.T1173R (C) and p.D253H/ p.T1173R (D). Login to comment
81 BALF analysis Western blot analysis of surfactant proteins (Fig. 4) was performed in seven patients, who had the following ABCA3 mutations: p.D253H (patient 2), p.T1173R (patient 1), p.L462R/ p.G964S (patient 3), p.G202R/p.L303V (patient 7), p.Y963C (patient 8), p.R1583W/p.S128Rfs (patient 4) and p.S872G (patient 10), respectively. Login to comment
134 Finally, parents heterozygous for the p.R1583W, p.S128Rfs, p.R1521W or p.R208V mutations were not affected. Login to comment

PMID: 25105258 [PubMed] Akimoto T et al: "Hereditary interstitial lung diseases manifesting in early childhood in Japan."

No. Sentence Comment

5 Genetic variations considered responsible were detected in six (67%) of the nine infants with ILD: three with hPAP (SFTPC p.Leu45Arg and p.Gln145fs, and ABCA3 p.Arg1583Trp/p.Val1495CysfsX21), two with interstitial pneumonitis (SFTPC p.Lys63Glu and p.Ser72Asn/p.Gly100Ala), and one with ACD/MPV (FOXF1 p.Leu300ArgfsX79). Login to comment
64 To our knowledge, 10 other mutations in six cases (cases 2-5, 7, and 8) have not been reported to date, i.e., four SFTPC mutations of heterozygous p.Gln145fs, heterozygous p.Lys63Glu, p.Ser72Asn, and p.Gly100Ala, and six ABCA3 mutations of p.Arg1583Trp, p.Val1495CysfsX21, p.Pro73Leu, p.Gly1205Arg, p.Thr761Met, and p.Ala1362Val. Login to comment
67 Frameshift mutations were detected in case 2 Table 3.ߒ Eight patients in whom genetic variations were found Case BW/GW Onset Diagnosis AV iNO Genotype SIFT/ polyphen-2 Origin of variations Treatment Outcome 1 3,204/40 0 d hPAP Yes No SFTPC c.134T>C: p.Leu45Arg (het) Damaging/ damaging Denovo Surfactant, steroids, and Hch Undergoing treatment, 43 mo 2 2,600/40 6 d hPAP Yes No SFTPC c.433delC: p.Gln145fs (het) Not done Unknownc Surfactant, steroids, and Hch Died, 77 d 3 3,230/40 0 d hPAP Yes Yes ABCA3 c.4747C>T: p.Arg1583Trp, Damaging/ damaging Mother (asymptomatic) Surfactant, steroids, and Hch Died, 7 mo ABCA3 c.4483_4507del25: p.Val1495CysfsX21 Not done Father (asymptomatic) 4 3,060/41 5 mo IPa No No SFTPC c.187A>G: p.Lys63Glu (het) Damaging/ damaging Mother (asymptomatic) and mother`s father (pulmonary fibrosis) Steroids and Hch Undergoing treatment, 54 mo 5 3,520/38 2 wk IP Yes No SFTPC c.215G>A: p.Ser72Asn Damaging/ damaging Unknownc Steroids, CsA, CPM, and AZP Undergoing treatment, 13 y SFTPC c.299G>C: p.Gly100Ala Damaging/ benign 6 3,344/41 3 mo ACD/MPV Yes Yes FOXF1 c.899delT: p.Leu300ArgfsX79 (het) Not done Denovo Steroids, vasodilator Undergoing treatment, 24 mo 7 3,194/40 0 d URD Yes No ABCA3 c.218C>T: p.Pro73Leu Tolerated/ benignb Unknownc None Recovered ABCA3 c.3613G>A: p.Gly1205Arg Tolerated/ benignb 8 778/27 8 mo CLD, PH Yes No ABCA3 c.2282C>T: p.Thr761Met, Damaging/ damaging Mother (asymptomatic) Vasodilator Undergoing treatment, 17 mo ABCA3 c.4085C>T: p.Ala1362Val Tolerated/ benignb Father (asymptomatic) ACD/MPV, alveolar capillary dysplasia with misalignment of pulmonary veins; AV, assisted ventilation; AZP, azathioprine; BW/GW, birth weight/gestational week at delivery; CLD, chronic lung disease; CPM, cyclophosphamide; CsA, cyclosporine A; Hch, hydroxychloroquine; hPAP, hereditary pulmonary alveolar proteinosis; iNO, inhaled nitric oxide; IP, interstitial pneumonitis; PH, pumonary hypertension; URD, unexplained respiratory distress. Login to comment
74 The p.Arg1583Trp in case 3 was judged as "damaging" with both SIFT and polyphen-2. Login to comment