ABCMdb

PMID: 17660803

Bruder E, Hofmeister J, Aslanidis C, Hammer J, Bubendorf L, Schmitz G, Rufle A, Buhrer C
Ultrastructural and molecular analysis in fatal neonatal interstitial pneumonia caused by a novel ABCA3 mutation.
Mod Pathol. 2007 Oct;20(10):1009-18. Epub 2007 Jul 27., [PubMed]

Sentences

No. Mutations Sentence Comment

3 ABCA3 p.Pro193Arg We studied lung biopsy samples of two siblings with a novel homozygous ABCA3 mutation at nucleotide position 578 (c.578C4G), leading to a Pro193Arg amino-acid exchange, who died at 55 and 105 days of age. Login to comment 52 ABCA3 p.Pro193Arg The patient was found to be homozygous for a point mutation of base pair 578 C4G in exon 7 (c.578C4G, numbering beginning at the ATG start as given in mRNA NM_001089.1), resulting in amino-acid exchange Pro193Arg (Figure 5). Login to comment 96 ABCA3 p.Pro193Arg The red circle indicates the novel mutation Pro193Arg found in this study, located in the first extracellular domain. Login to comment 107 ABCA3 p.Pro193Arg This ABCA3 mutation has not been described previously.8,10 Proline is known to have a strong structural effect due to its long side chain and is therefore also referred to as 'helix breaker`.33 As a consequence, the amino-acid exchange Pro193Arg implies an alteration of secondary molecule structure and is predicted to result in massive functional impairment of ABCA3. Login to comment 109 ABCA3 p.Pro193Arg The conventional and ultrastructural morphologic findings in our patients correlate with a severe phenotype associated with homozygous Pro193Arg ABCA3 gene mutation. Login to comment 110 ABCA3 p.Pro193Arg Absence of respiratory symptoms in the three Pro193Arg heterozygous adult patients implies sufficiently retained ABCA3 protein function in the heterozygous state. Login to comment