ABCMdb

PMID: 24871971

Wambach JA, Casey AM, Fishman MP, Wegner DJ, Wert SE, Cole FS, Hamvas A, Nogee LM
Genotype-phenotype correlations for infants and children with ABCA3 deficiency.
Am J Respir Crit Care Med. 2014 Jun 15;189(12):1538-43. doi: 10.1164/rccm.201402-0342OC., [PubMed]

Sentences

No. Mutations Sentence Comment

64 ABCA3 p.Glu292Val ABCA3 p.Tyr1515* Five mutations were identified in more than five unrelated individuals: (1) p.E292V, (2) p.Y1515X, (3) IVS25-98 C . Login to comment 66 ABCA3 p.Glu292Val p.E292V is the most common ABCA3 mutation associated with childhood interstitial lung disease (13, 15, 21) and was identified among 16 subjects (Subjects 53, 129-143; see Table E2). Login to comment 67 ABCA3 p.Glu292Val One infant was homozygous for p.E292V, presented with neonatal respiratory failure, and died shortly after birth (Subject 129; see Table E2). Login to comment 68 ABCA3 p.Glu292Val The remaining 15 individuals were compound heterozygous for p.E292V and had variable outcomes (see Table E2). Login to comment 69 ABCA3 p.Tyr1515* ABCA3 p.Tyr1515* All of the 19 Middle Eastern infants with the p.Y1515X/p.Y1515X genotype for whom complete clinical information was known presented with severe neonatal RDS and died before 3 months of age (Subjects 22-40; see Table E1; two infant outcomes unknown). Login to comment 109 ABCA3 p.Arg43Cys ABCA3 p.Arg43His ABCA3 p.Arg43Leu Seven unrelated individuals from diverse ethnic and geographic origins had a mutation in codon 43 (p.R43C, p.R43H, and p.R43L, Subjects 92 and 93 [siblings], 101, 104, 105, 118, 173, 174) and these mutations have been reported in other ABCA3-deficient patients from diverse geographic locations (12, 28, 29), suggesting that this codon may be particularly susceptible to mutation. Login to comment 134 ABCA3 p.Pro766Ser ABCA3 p.Arg288Lys ABCA3 p.Arg43Cys ABCA3 p.Arg280Cys ABCA3 p.Asp253His ABCA3 p.Arg1482Trp ABCA3 p.Leu960Phe ABCA3 p.Trp179Cys ABCA3 p.Val129Met ABCA3 p.Ser693Leu ABCA3 p.Val1495Met ABCA3 p.Pro1653Leu ABCA3 p.Gln1589* ABCA3 p.Asp115Glu ABCA3 p.Ala54Thr ABCA3 p.Pro770Leu ABCA3 p.Glu195Lys ABCA3 p.Asp953Asn ABCA3 p.Arg1271Gln ABCA3 p.His778Arg ABCA3 p.Leu1252Pro Alleles with ABCA3 Variants in Cis Allele Number of Subjects with Allele R43C-P1653L 1 D115E-D253H 1 (2 alleles, 1 subject homozygous) V129M-V1495M 1 W179C-P770L 3 (3 subjects heterozygous) E195K-R1271Q 1 R280C-Q1589X 2 (3 alleles, 1 subject homozygous, 1 subject heterozygous) R288K-S693L 2 (2 subjects heterozygous) c.1474_1475insT-D953N 4 (3 siblings homozygous, 1 subject heterozygous) P766S-L960F 4 (4 subjects heterozygous) H778R-L1252P 1 A54T-R1482W-IVS25-98 C . Login to comment