Article Figures & Data
Figures
- Figure 1
- family pedigree and segregation analysis, + indicates the mutant allele, - indicates the wild type allele
Tables
Parameters Value Normal Range Creatine Kinase 89 (50 - 170 U/L) Aspartate Transaminase 229H (5 - 32 U/L) Alanine Transaminase 132 H (5 - 33 U/L) Total Bilirubin 5 (2 - 5 umol/L) Albumin 38 (35 - 52 g/L) Urate 161 (110 - 390 umol/L) Cholesterol 2.50 (1.93 - 4.80 mmol/L) Triglyceride 1.65 (0.10 - 4.00 mmol/L) Gamma GT 17 (5 - 36 U/L) Lactate (Plasma) 1.2 (0.5 - 2.2 mmol/L) Acylcarnitine and amino acids unremarkable Organic acids GCMS Urine unremarkable Hepatitis A IgM negative Hepatitis A IgG positive Hepatitis B surface Antigen negative Hepatitis C antibody negative Lymphocyte subset analysis using lysed whole blood. All B cells are MHC-class II (HLA-DR) positive ALL cells are CD18/CD11a positive Subset Cells/cu mm % Lymphs Refence Range Natural Killer Cells 99 4 2 – 26 Suppr T Cells 791 35 5 – 49 Helper T Cells 657 29 29 – 76 Total B cells 503 21 1 – 37 Total T cells 1647 73 56 – 93 Diphtheria Abs 0.27 IU/mL 0.10 - 1.0 IU/ml: Immunity present Pneumococcal IgG Abs Pneumococcal IgG Antibodies 13.60 H 0.00 - 0.33 mg/l Immunoglobulin G 8.87 7.51 - 16.00 g/L Immunoglobulin A 2.33 0.82 - 4.53 g/L Immunoglobulin M 1.37 0.46 - 3.00 g/L IGE 22.8 .0 - 100.0 kU/l Date Summary from the initial and follow up visits Diagnostic testing intervention 9/2015 19 months old presented with hepatomegaly to the general pediatric clinic Viral hepatitis screen was negative Liver enzymes were elevated given appointment after 3 months 12/2015 Reevaluated in the general pediatric clinic, still with mild hepatomegaly The liver enzymes mildly increased Follow up 2/2016 Seen in the gastroenterology clinic, hepatomegaly was persistent The liver enzymes mildly increased Follow up 12/2017 Assessed in the metabolic clinic, metabolic profile requested The liver was enlarged Whole exome sequencing WES Follow up 3/2018 Reassessed in the metabolic clinic, more hepatomegaly, new symptoms of myopathy WES: RBCK1 gene variant Family segregation analysis Physical therapy Family counseling 5/2018 Hepatomegaly and fatigue with exertion The gene variant was Segregating well Physical therapy 12/2020 Hepatomegaly and more fatigue with exertion Liver enzymes were high, the latest reference ALT= 51 H (5 - 33 U/L) AST=48 H (5 - 32 U/L) Physical therapy - Table 3
- RBCK1 genotype and phenotype association. Permission taken from the author as well as the journal
Family Mutation(s)a Affected exons Age at onset(years) Myopathy/Cardiomyopathy Immunodeficiency Autoinflammation Prognosis 1 c.ex1_ex4del E1-4 <1 + ++ ++ Died during childhood p.Q185* E5 2 p.L41fs*7 E2 <1 + ++ ++ Died during childhood 3 p.E243Gfs*114 E6 4 ++ + + Died at age 20 c.ex1_ex4del E1-4 4 p.A18P E2 Childhood + - - Died at age 19 5 c.456 + 1G > C E5/6 (intronic) 8 + - - NA 6 p.R165Rfs*111 9 ++ - - Died at age 15 7 p.Q222* E6 8 + - - NA p.E190fs E5 8 p.A241Gfs*34 E6 Childhood + - - Alive at age 29 9 p.R298Rfs*40 E7 17 + - + Alive at age 32 10 p.E299Vfs*18 E7 5,6 ++ - - Alive at age 19, 24 11 p.E299Vfs*46b E7 14 ++ + + Died at age 17 12 p.E299Vfs*46b E7 12 ++ + + Alive at age 33 13 p.E243* E6 12,16 ++ - + Alive at age 47, 50 p.N387S E9 14 p.R352* E9 12 ++ - - Alive at age 26
