ABCMdb

ABCA3 p.Asp123Asn

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Publications

PMID: 20371530 [PubMed] Crossno PF et al: "Identification of early interstitial lung disease in an individual with genetic variations in ABCA3 and SFTPC."

No. Sentence Comment

3 The father and one daughter (aged 39 years) also had a transversion encoding an Asp123Asn (D123N) substitution in ABCA3. Login to comment
26 Pedigree demonstrating carrier status of the Ile73Thr SFTPC mutation and Asp123Asn ABCA3 variation. Login to comment
41 DNA from the father and one daughter (aged 39 years) were also heterozygous for an exon 3 guanine-to-adenosine transition of ABCA3 predicted to convert residue 123 from aspartate to asparagine. Login to comment
43 Thus, this D123N ABCA3 variation may represent a mutation. Login to comment
44 One daughter (aged 43 years) did not have the D123N ABCA3 variant. Login to comment
61 Hematoxylin and eosin-stained lung tissue obtained at transbronchial biopsy from an asymptomatic individual who was heterozygous for both the Ile73Thr SFTPC mutation and Asp123Asn ABCA3 variation. Login to comment
73 Discussion In this report, we describe the presence of two heterozygous gene variations, I73T SFTPC and D123N ABCA3, within a single family. Login to comment
76 Immunohistochemistry (IHC) for components of the unfolded protein response (UPR) from lung tissue obtained at transbronchial biopsy from an asymptomatic individual heterozygous for both the Ile73Thr SFTPC mutation and Asp123Asn ABCA3 variation (same individual in Fig 2-4). Login to comment
89 Although it is not known from our studies how the D123N ABCA3 variation affects ABCA3 function, given prior pediatric reports and the fact that Asp123 is conserved across species, we speculate that this variation could affect surfactant processing and contribute to development of ILD in this family. Login to comment
93 Electron microscopic images of lung tissue obtained at transbronchial biopsy from an asymptomatic individual heterozygous for both the Ile73Thr SFTPC mutation and Asp123Asn ABCA3 variation. Login to comment

PMID: 24142515 [PubMed] Beers MF et al: "Disruption of N-linked glycosylation promotes proteasomal degradation of the human ATP-binding cassette transporter ABCA3."

No. Sentence Comment

231 Specifically, mutation of aspartate to asparagine at residue 123 (D123N) has also been associated with familial ILD with fibrotic lung remodeling. Login to comment

PMID: 25553246 [PubMed] Coghlan MA et al: "Sequencing of idiopathic pulmonary fibrosis-related genes reveals independent single gene associations."

No. Sentence Comment

93 Homozygous recessive or compound heterozygous ABCA3 mutations cause neonatal respiratory failure and childhood ILD, and single ABCA3 mutations (p.E292V and p.D123N) interacting with SFTPC p.I73T have been reported in two families, one with childhood ILD and one with IPF.10 34 Our identification of one individual who was homozygous for ABCA3 p.E292V adds to the recent identification of a kindred with pulmonary fibrosis due to a p.G964D thus further supporting the possibility that adult-onset fibrotic lung disease due to homozygous or compound heterozygous mutations in ABCA3 may occur.11 In contrast to our previous study that demonstrated an enrichment of single ABCA3 mutations in newborns with RDS, suggesting a developmental interaction that increased risk or severity of disease, we did not find the frequency of single ABCA3 mutations in the IPF cohort to be greater than the 3-5% in the general population. Login to comment