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Table 1 Summary of pulmonary and vascular findings in SIOD patients with SMARCAL1 mutations

From: Reduced elastogenesis: a clue to the arteriosclerosis and emphysematous changes in Schimke immuno-osseous dysplasia?

Pedigree No. SMARCAL1 mutations Sex Pulmonary findings Vascular findings Age at death Cause of death
    Age at onset Lung dysfunction or pathology Age at onset CVA TIA Moya moya   
SD4a c.[1930C>T];[410delA] F   NR   - NR NR 8 Renal failure
SD4b c.[1930C>T];[410delA] M   NR   - NR NR 8 Renal failure
SD8 c.[1190delT];[?]A F   NR   - NR NR 5.7 Pneumonia
SD16 c.[1933C>T];[1643T>A] M 34 Mild panlobular emphysema with dyspnea, pulmonary hypertension, restrictive lung disease   - - -   
SD18a c.[1756C>T];[1756C>T] M   NR   NR - NR 43 Cryptococcus meningitis
SD18c c.[1756C>T];[1756C>T] F   -   - - -   
SD22 c.[2459G>A];[2459G>A] M   NR 8 - + - 14.6 CMV infection
SD23 c.[2542G>T];[2542G>T] M   NR 4.1 + + - 10.3 Unknown
SD24 NT_005403.17: g.[67482574_67497178del] +[67482574_67497178del] F   - 7.5 + + NR 9 CVE
SD25 c.[100C>T];[49C>T] F   - 5 + + NR 10.1 CVE
SD26 c.[2542G>T];[1190delT] M NR Pulmonary edema 5.3 + + - 8 Renal and bone marrow failure
SD27 c.[1940A>C];[1940A>C] F   -   - - - 25.6 Infectious pulmonary disease
SD28 c.[1696A>T;1698G>C;1702delG]; [1696A>T;1698G>C;1702delG] M 12 Chronic cough, dyspnea, pulmonary hypertension   NR - NR 12 Pulmonary hypertension
SD29 c.[1934delG];[862+1G>T] M 3.7 Pulmonary edema, restrictive lung disease, pulmonary fibrosis < 3 + + NR 4 Infectious pulmonary diseaseB
SD30 c.[1132G>T];[1132G>T] F   NR 5.7 + - + 10 HSV pneumonitis
SD31 NT_005403.17: g.[67482574_67497178del] +[67482574_67497178del] F   NR 11 + + + 14 Lymphoproliferative disease (secondary)
SD33a c.[1146_1147delAA;1147+1_2delGT]; [1097-2A>G] F   -   - - NR 2.8 Bone marrow failure
SD33b c.[1146_1147delAA;1147+1_2delGT]; [1097-2A>G] M   - < 1 + - NR 3.7 CVE
SD35 c.[1736C>T];[2321C>A] M NR Pulmonary fibrosis   - - - 8 Renal failure
SD38 c.[1096+1G>A];[1096+1G>A] M 2 Asthma NR NR + - 10.8 Complications of blood stem cell transplant
SD39 c.[2114C>T];[1402G>C] M   NR 11 + + NR 15 CVE
SD44 c.[2321C>A];[1191delG] M   - 9 + + NR 11.9 Digestive bleeding
SD47 c.[2459G>A];[?]A M   - 7 + + -   
SD48 c.[1939A>C];[1939A>C] F 6.8 Pulmonary hypertension 4 + + + 6.8 EBV pneumonia
SD49 c.[2321C>A];[1920_1921insG] M 4.8 Pulmonary edema   - - - 4.8 Unknown
SD50 c.[2542G>T];[2542G>T] F 3 Restrictive lung disease 4.5 + + NR 8 Peritonitis and sepsis post transverse colon perforation
SD51 c.[2542G>T];[2459G>A] F   -   - - -   
SD53 c.[2291G>A];[2543G>T] M   NR   - - NR   
SD57 c.[955C>T];[955C>T] F < 10 Asthma, wheezing, basilar atelectasia 8 + + - 28 Pancreatitis
SD60 c.[2542G>T];[2542G>T] M NR Pulmonary edema, pulmonary hypertension, emphysematous changes upon autopsy 8 + + NR 13.7 CVE
SD61 c.[1146_1147delAA;1147+1_2delGT]; [1146_1147delAA;1147 + 1_2delGT] M   -   - - NR 5 Lymphoproliferative disease (primary)
SD65a c.[2542G>T];[836T>C] M   -   - - -   
SD65b c.[2542G>T];[836T>C] M 23 Diffusion and perfusion lung disorder 14 + + -   
SD66 c.[1933C>T];[1933C>T] M NR Pulmonary edema 7 + + + 13 Congestive heart failure
SD68 c.[1940A>C];[2462T>G] F   - 6 + + - 7.1 CVE
SD70 c.[340_341insAGTCCAC];[836T>C] F   - 6 + + - 18 Recurrent ileus pathology
SD71 c[1000C>T];[836T>C] M   - 6 + + - 9 Unknown
SD74 c.[1736C>T];[?]A M   -   - - -   
SD78 c.[2264T>G];[1439C>T] F   -   NR - NR 10 Pneumonia
SD79 c.[2459G>A];[?]A F   -   - - - 10 Complications of BMT
SD84 c.[2104T>G];[1248_1249insC] M NR Pulmonary hypertension, emphysematous changes upon autopsy 10 - + + 23 Pulmonary hypertension with heart failure
SD86 c.[2263_2282delATCGATGGCTCCACCTCATC];[1129G>C] F   -   - - - 5.7 Complications following BMT
SD96 c.[1427G>A];[1427G>A] M 6 Recurrent lung infections   - - - 6 InfectionC
SD99 c.[1402G>C];[1402G>C] F 5.5 Pulmonary edema   - - NR 5.5 Pulmonary edema and left heart failure
SD101 c.[2542G>T];[2542G>T] M   NR 3 - + -   
SD102 c.[2542G>T];[2542G>T] M   NR   NR NR NR 8 Renal failure
SD106 c.[1682G>A];[1682G>A] M 4 Chronic coughing and wheezing 5.5 - + NR 8 Non-Hodgkin Lymphoma
SD107 c.[2542G>T];[2542G>T] F 3 Restrictive lung disease   NR - NR 6 Thrombosis
SD108a c.[1798C>T];[1798C>T] M   -   - - -   
SD108b c.[1798C>T];[1798C>T] M   -   - - NR   
SD111 c.[1129G>C];[1592T>C] M 13 Pulmonary hypertension, chronic cough, restrictive lung disease 15 + + - 17.5 Respiratory failure
SD112a c.[1934G>A];[2542G>T] F   -   - - -   
SD112b c.[1934G>A];[2542G>T] F   -   - - -   
SD114 c.[1898T>C];[1898T>C] M   - 4 + - + 9.5 Unknown
SD115 c.[1437_1438insG];[1437_1438insG] F < 0.6 Mild bronchiectasis   - - - 1 Pneumonia with respiratory failure
SD119 c.[2449C>T];[2542G>T] F   NR   NR - NR   
SD120 c.[2291G>A];[2542G>T] M NR Restrictive lung disease, emphysematous changes 3 - + - 5.5 Respiratory failure
SD121 c.[1382G>A];[2542G>T] F   - 3.3 + - - 4.8 CVE
SD123 c.[49C>T];[49C>T] F   - 4 - + -   
SD124 c.[1920_1921insG];[1920_1921insG] M   -   - NR -   
SD127 c.[1736C>T];[1736C>T] F 9 Reactive airway disease 7 + + +   
SD131 c.[1026C>A];[2264T>G] M   - NR + - - 4.6 Cerebral hemorrhage
SD133a c.[863-2A>G;2343_2347_delGCTGT]; [=;2343_2347_delGCTGT] F   -   - - - 3 Pulmonary embolism (secondary)
SD133b c.[863-2A>G;2343_2347_delGCTGT]; [=;2343_2347_delGCTGT] F         Terminated pregnancy
SD138 c.[2542G>T];[2542G>T] M   - NA   NA NA NA  
  1. Abbreviation: +, feature present; -, feature not present; BMT, bone marrow transplant; CVE, cerebrovascular event; CMV, cytomegalovirus; EBV, Epstein-Barr virus; F, female; HSV, herpes simplex virus; M, male; NA, not applicable; NR, not reported; TIA, transient ischemic attack.
  2. A[?] represents alleles with noncoding SMARCAL1 mutations as described by Clewing et al.[60].
  3. BNo bacteriologic or viral proof.
  4. CInfection of peritoneal dialysis fluid.