ABCMdb

PMID: 18628224

Young LR, Nogee LM, Barnett B, Panos RJ, Colby TV, Deutsch GH
Usual interstitial pneumonia in an adolescent with ABCA3 mutations.
Chest. 2008 Jul;134(1):192-5., [PubMed]

Sentences

No. Mutations Sentence Comment

56 ABCA3 p.His1255Gln ABCA3 p.His1255Gln Sequencing of ABCA3 revealed three novel heterozygous variants: c1-28AϾG, predicted to cause elimination of the splice acceptor site for the first translated exon, IVS9 ϩ 11CϾT (intron 9), and c3765CϾG, resulting in substitution of glutamine for histidine in codon 1255 (H1255Q). Login to comment 57 ABCA3 p.His1255Gln H1255Q was identified in the single parent available for testing, indicating that it is likely in trans to the other variants, although the possibility of de novo mutational events cannot be excluded. Login to comment 59 ABCA3 p.His1255Gln ABCA3 p.His1255Gln Sequencing of ABCA3 revealed three novel heterozygous variants: c1-28Ab0e;G, predicted to cause elimination of the splice acceptor site for the first translated exon, IVS9 af9; 11Cb0e;T (intron 9), and c3765Cb0e;G, resulting in substitution of glutamine for histidine in codon 1255 (H1255Q). Login to comment 60 ABCA3 p.His1255Gln H1255Q was identified in the single parent available for testing, indicating that it is likely in trans to the other variants, although the possibility of de novo mutational events cannot be excluded. Login to comment 70 ABCA3 p.Glu292Val that have been studied in vitro have been associated with abnormal ABCA3 intracellular trafficking and/or function, indicating that it is loss of ABCA3 function that is responsible for lung disease.14,15 One missense mutation, E292V, was identified in multiple unrelated children who were compound heterozygotes for ABCA3 mutations and who had milder lung disease, suggesting that some ABCA3 genotypes may predict phenotype.6 The ABCA3 variants identified in this patient of Spanish ancestry have not been previously reported. Login to comment 73 ABCA3 p.Glu292Val that have been studied in vitro have been associated with abnormal ABCA3 intracellular trafficking and/or function, indicating that it is loss of ABCA3 function that is responsible for lung disease.14,15 One missense mutation, E292V, was identified in multiple unrelated children who were compound heterozygotes for ABCA3 mutations and who had milder lung disease, suggesting that some ABCA3 genotypes may predict phenotype.6 The ABCA3 variants identified in this patient of Spanish ancestry have not been previously reported. Login to comment