ABCMdb

PMID: 20371530

Crossno PF, Polosukhin VV, Blackwell TS, Johnson JE, Markin C, Moore PE, Worrell JA, Stahlman MT, Phillips JA 3rd, Loyd JE, Cogan JD, Lawson WE
Identification of early interstitial lung disease in an individual with genetic variations in ABCA3 and SFTPC.
Chest. 2010 Apr;137(4):969-73., [PubMed]

Sentences

No. Mutations Sentence Comment

3 ABCA3 p.Asp123Asn ABCA3 p.Asp123Asn The father and one daughter (aged 39 years) also had a transversion encoding an Asp123Asn (D123N) substitution in ABCA3. Login to comment 26 ABCA3 p.Asp123Asn Pedigree demonstrating carrier status of the Ile73Thr SFTPC mutation and Asp123Asn ABCA3 variation. Login to comment 41 ABCA3 p.Asp123Asn 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 ABCA3 p.Asp123Asn Thus, this D123N ABCA3 variation may represent a mutation. Login to comment 44 ABCA3 p.Asp123Asn One daughter (aged 43 years) did not have the D123N ABCA3 variant. Login to comment 61 ABCA3 p.Asp123Asn 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 ABCA3 p.Asp123Asn 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 ABCA3 p.Asp123Asn 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 88 ABCA3 p.Glu292Val ABCA3 p.Leu212Met Previously, Bullard and Nogee7 analyzed children with I73T SFTPC mutation-associated ILD and found heterozygous ABCA3 mutations in three of four individuals-two with E292V (glutamic acid-to-valine) and one with L212M (leucine-to-methionine). Login to comment 89 ABCA3 p.Asp123Asn 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 ABCA3 p.Asp123Asn 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