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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
  1. Original table taken from Agrawal et al. 2012 [5], and modified by the authors. ? Unknown mutation, y/o year old