ABCMdb

PMID: 17142158

Bullard JE, Wert SE, Nogee LM
ABCA3 deficiency: neonatal respiratory failure and interstitial lung disease.
Semin Perinatol. 2006 Dec;30(6):327-34., [PubMed]

Sentences

No. Mutations Sentence Comment

93 ABCA3 p.Glu292Val ABCA3 p.Glu292Val Interestingly all 3 children shared the same mutation on 1 allele, a substitution of valine for glutamic acid in codon 292 (called E292V). Login to comment 94 ABCA3 p.Glu292Val ABCA3 p.Glu292Val Interestingly all 3 children shared the same mutation on 1 allele, a substitution of valine for glutamic acid in codon 292 (called E292V). Login to comment 95 ABCA3 p.Glu292Val These findings argue that E292V is not a benign sequence variant. Login to comment 96 ABCA3 p.Glu292Val ABCA3 p.Glu292Val The E292V mutation was not found on 200 control alleles from individuals without lung disease screened anonymously, indicating that it is not a common polymorphism. Login to comment 97 ABCA3 p.Glu292Val ABCA3 p.Glu292Val However, when 150 additional children with chronic lung disease enrolled in the study were then screened for the presence of this mutation, 7 additional patients were identified who had the E292V mutation on 1 allele, and a second ABCA3 mutation identified on the other allele in 5 of these patients. Login to comment 98 ABCA3 p.Glu292Val However, when 150 additional children with chronic lung disease enrolled in the study were then screened for the presence of this mutation, 7 additional patients were identified who had the E292V mutation on 1 allele, and a second ABCA3 mutation identified on the other allele in 5 of these patients. Login to comment 116 ABCA3 p.Glu292Val A recent study presented in preliminary form examined the role of one ABCA3 gene variant in RDS.52 Specifically the frequency of the ABCA3 E292V mutation was ascertained in a study group of premature infants with RDS and compared with a control group without RDS. Login to comment 117 ABCA3 p.Glu292Val ABCA3 p.Glu292Val Nine of 181 (5%) infants with RDS had the E292V mutation on one allele, whereas only 2 control infants (out of 167) were found to have the mutation. Login to comment 118 ABCA3 p.Glu292Val ABCA3 p.Glu292Val Moreover, the incidence of air leak was very high (7 of 9, 78%) in infants with the E292V mutation. Login to comment 119 ABCA3 p.Glu292Val Moreover, the incidence of air leak was very high (7 of 9, 78%) in infants with the E292V mutation. Login to comment 135 ABCA3 p.Glu292Val The etiology of PIG/ NBD1 NBD2 25 42 285 262 304 326 346 368 373 395 448 470 926 946 1098 1120 1141 1167 1180 1202 1212 1234 1303 1324 * E292V Figure 2 Model of ABCA3 protein structure. Login to comment 136 ABCA3 p.Glu292Val The etiology of PIG/ NBD1 NBD2 25 42 285 262 304 326 346 368 373 395 448 470 926 946 1098 1120 1141 1167 1180 1202 1212 1234 1303 1324 * E292V Figure 2 Model of ABCA3 protein structure. Login to comment 137 ABCA3 p.Glu292Val The location of the most frequently identified mutation (E292V) associated with ILD is indicated. Login to comment 138 ABCA3 p.Glu292Val The location of the most frequently identified mutation (E292V) associated with ILD is indicated. Login to comment