ABCMdb

ABCA3 p.Leu212Met

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Publications

PMID: 22337229 [PubMed] Agrawal A et al: "An intronic ABCA3 mutation that is responsible for respiratory disease."

No. Sentence Comment

80 However, the mechanism to account for this larger aberrant transcript with an additional 249 bases Table 1. Characteristics of subjects with one ABCA3 mutation Patient Ethnicity Presentation Allele 1 mutation Allele 2 mutation Findings consistent with ABCA3 deficiency Outcome A Caucasian Newborn, RDS p.E690K IVS25-98T Case patient; lung histopathology and EM Died B Caucasian RDS p.L941P IVS25-98T Family history of sibling with fatal RDS Died C Caucasian 8 y/old, ILD L212M ? Login to comment

PMID: 20371530 [PubMed] Crossno PF et al: "Identification of early interstitial lung disease in an individual with genetic variations in ABCA3 and SFTPC."

No. Sentence Comment

88 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

PMID: 19148933 [PubMed] Abou Taam R et al: "Familial interstitial disease with I73T mutation: A mid- and long-term study."

No. Sentence Comment

118 Recently Bullard and Nogee2 reported an additional heterozygous ABCA3 mutation in three of four infants with SFTPC I73T mutation, all of whom developed a respiratory disease by 2 months of age (E292Vin two patients and L212M in one patient). Login to comment

PMID: 17597647 [PubMed] Bullard JE et al: "Heterozygosity for ABCA3 mutations modifies the severity of lung disease associated with a surfactant protein C gene (SFTPC) mutation."

No. Sentence Comment

54 Patient 3 was heterozygous for a missense mutation in exon 8, a substitution of methionine for leucine at codon 212, L212M. Login to comment
67 Circle, female; square, male; shaded quarter symbol, SFTPC I73T; solid quarter symbol, ABCA3 E292V; check- ered quarter symbol, ABCA3 L212M; slash through symbol, deceased; IPF, idiopathic pulmonary fibrosis; RSV, respiratory syncytial virus. Login to comment
75 The third infant had a different missense mutation, ABCA3 L212M, which results in a conservative neutral substitution. Login to comment
76 It is possible that L212M represents a rare but benign polymorphism. Login to comment
77 However, two siblings with significant respiratory symptoms and who had lung histopathology findings consistent with surfactant dysfunction were compound heterozygotes for a previously identified ABCA3 nonsense mutation (R106X) and L212M, suggesting that L212M is a disease-causing mutation (L.M. Nogee, unpublished data). Login to comment
78 However, two siblings with significant respiratory symptoms and who had lung histopathology findings consistent with surfactant dysfunction were compound heterozygotes for a previously identified ABCA3 nonsense mutation (R106X) and L212M, suggesting that L212M is a disease-causing mutation (L.M. Nogee, unpublished data). Login to comment

PMID: 23166334 [PubMed] Wambach JA et al: "Single ABCA3 mutations increase risk for neonatal respiratory distress syndrome."

No. Sentence Comment

57 Although the European-descent RDS infants had a lower mean gestational age than non-RDS infants (Table 1), there was no statistical difference in mean gestational age or birth weight for European-descent infants with or without ABCA3 mutations, thereby suggesting that ABCA3 mutations are associated with RDS rather than TABLE 3 Rare Mutations Identified Among Infants of European Descent Gene Mutation RDS (n = 112) Non-RDS (n = 161) Missouri Population (n = 871) ESP (n = 3510) ABCA3 R20W 2 R43C 1 V129M 1 A132T 1 V133M 1 R208W 1 L212M 3 14 P246L 1 R280C 1 R280H 12 R288K 6 (5.3%)a 2 (1.2%)a 14 (1.6%)a 54 (1.5%)a E292V 7 (6.2%)a 1 (0.6%)a 1 (0.1%)a 32 (0.9%)a V480M 1 E522K 1 I561F 1 G594R 1 L654V 2 G668D 1 R671C 1 S693L 1 7 E725K 1 T761K 1 R1081W 1 I1117M 1 A1119E 1 A1297T 1 I1382M 1 T1424M 1 M1428L 2 R1457Q 1 A1466T 1 R1474W 1 3 8 29 V1495M 1 S1516N 1 R1561Q 1 V1588M 1 c.3863-98 C.T 1 ABCA3 allele (carrier) frequency 16 (14.3%)a 6 (3.7%)a 31 (3.6%)a 176 (5.0%)a SFTPC D15N 1 I26V 1 A53T 1 1 L110R 1 SFTPC allele (carrier) frequency 1 (0.1%)a 4 (0.1%)a CHPT1 S40W 4 W60C 1 D132E 2 CHPT1 allele (carrier) frequency 7 (0.2%)a LPCAT1 G110S 1 P230S 1 R237Q 1 M298V 1 E312K 1 F460V 1 R526W 1 LPCAT1 allele (carrier) frequency 1 (0.1%)a 6 (0.2%)a PCYT1B V192F 1(0.03%)a Identified mutations are predicted to be damaging according to both SIFT and PolyPhen (accessed March 2012) or previous association with pediatric respiratory disease. Blank boxes indicate the mutations were not observed in that specific cohort. Login to comment