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