Table 1 Characteristics of patients with ABCA3 mutation
From: Fatal respiratory disease due to a homozygous intronic ABCA3 mutation: a case report
Author | Patient | Ethnicity | Presentation | Allele 1 mutation | Allele 2 mutation | Findings consistent with ABCA3 deficiency | Outcome | Genotype |
|---|---|---|---|---|---|---|---|---|
Young et al. 2008 [7] | 15 y/o, indolent exercise intolerance, and chest discomfort | c1–28>G | ? | Alive; no clinical, physiologic, or radiographic progression | Heterozygous for ABCA3 | |||
IVS9 + 11C>T | ? | |||||||
c3765C>G | ? | |||||||
Hofmeister et al. 2008 [8] | Proband | African | Newborn, respiratory distress syndrome | 578C>G | 578C>G | Died | Homozygous for ABCA3 | |
Proband’s brother | African | Newborn, respiratory distress syndrome | 578C>G | 578C>G | Died | Homozygous for ABCA3 | ||
Agrawal et al. 2012 [5] | A | White | Newborn, respiratory distress syndrome | p.E690K | IVS25-98T | Lung histopathology and electron microscopy | Died | |
B | White | Respiratory distress syndrome | p.L941P | IVS25-98T | Family history of sibling with fatal respiratory distress syndrome | Died | Heterozygous for ABCA3 | |
C | White | 8 y/o, interstitial lung disease | L212M | ? | Mutation associated with disease in other patients | Alive with interstitial lung disease | ||
D | White | Newborn, respiratory distress syndrome | c.4903ins5 | ? | Family history of two siblings with fatal respiratory distress syndrome, lung histopathology, and electron microscopy | Died | ||
E, F | White | Newborn, respiratory distress syndrome | p.E1325K | ? | Died | |||
G | Hispanic | 2 months, interstitial lung disease | p.R43C | IVS25-98T | Lung histopathology and electron microscopy | Lung transplant | Heterozygous for ABCA3 IVS25-98C>T | |
H | Hispanic | Newborn, respiratory distress syndrome | p.A1070T | ? | Mutation associated with disease in other patients, lung histopathology | Alive with interstitial lung disease | ||
I | White | Newborn, respiratory distress syndrome | p.R43H | IVS25-98T | Mutation associated with disease in other patients, lung histopathology | Alive with interstitial lung disease | Heterozygous for ABCA3 | |
J | African-American | Interstitial lung disease | p.R280C | ? | Mutation associated with disease in other patients, lung histopathology | Alive with interstitial lung disease | ||
K | White | interstitial lung disease | p.N1418S | ? | Mutation associated with disease in other patients | Alive with interstitial lung disease | ||
Thavagnanam et al. 2013 [9] | Newborn, mild respiratory distress syndrome | c.447 + 11C>T | c.2333 A>G | Family history of sibling with fatal respiratory distress syndrome, lung histopathology, and electron microscopy | Alive | Four variants for ABCA3 | ||
c.4583 C>T | c.3755 T>C | |||||||
Gonçalves et al. 2013 [10] | Newborn, respiratory distress syndrome | L798P | R1612P | Lung histology | Died | Compound heterozygous mutations in ABCA3 | ||
Panigrahy et al. 2014 [11] | Newborn, respiratory distress syndrome | c3703 + 1 G>T | c3703 + 1 G>T | Lung histology | Died | Homozygous for ABCA3 | ||
Malý et al. 2014 [12] | Newborn, respiratory distress syndrome | c.3680 T>G | c4289_4290insA | Died | Two compound heterozygous mutations in ABCA3 | |||
Rezaei et al. 2016 [13] | Newborn, respiratory distress syndrome | p.Gly202Arg/G202R | p.Gly202Arg/G202R | Died | Homozygous for ABCA3 | |||
Ota et al. 2016 [14] | Asian | 8 y/o, interstitial lung disease, combined pulmonary fibrosis and emphysema, and pulmonary hypertension | p.L34P | p.1203_1204del | High resolution computed tomography | Alive with interstitial lung disease | Heterozygous for ABCA3 | |
Current report | Hispanic | Newborn, respiratory distress syndrome | IVS25-98T | IVS25-98T | Mutation associated with disease in other patients, lung histopathology | Died | Homozygous for ABCA3 | |