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Table 2 Clinical features of patients with NBAS deficiency reported in previous studies

From: Infantile fever-triggered acute liver failure caused by novel neuroblastoma amplified sequence mutations: a case report

Patient
ID
Sex Nationality Genotype Onset age of ALF or LC (Year) Age at last visit (Year) Number of ALF Number of LC ALF or LC Fever depended Skeletal system and musculature Typical morphological characteristics Integument (Cutis laxa) Nervous system Immune system Pelger Huët anomaly Other clinical manifestations
1 F Germany c.[558_560del];[686dup] p.[Ile187del];[Ser230Glnfs*4] 1.8 18 2 12 YES Short stature (− 2.67SD) NA NA Optic atrophy NO NO Hypotelorism
2 F Germany c.[2708 T > G];[2708 T > G] p.[Leu903Arg];[Leu903Arg] 0.6 22 7 6 YES Short stature (−2.08SD) NA NA Epilepsy; Learning disability (IQ 77) NO NO Acute renal failure; Hypotelorism
3 F Germany c.[603_605del];[3164 T > C] p.[Leu202del];[Leu1055Pro] 0.8 18 5 8 YES Short stature (−4.24SD) NA NA NO NO NO Hypotelorism; disease
4 F Germany c.[2708 T > G];[2827G > T] p.[Leu903Arg];[Glu943*] 0.7 37 NA NA YES Short stature (−2.25SD) NA NA Coordination deficit Intellectual disability (IQ 50) NO NO Hypotelorism
5 M Germany c.[3010C > T];[3164 T > C] p.[Arg1004*];[Leu1055Pro] 0.6 14 10 4 YES NO NA NA NO NO NO Hypotelorism; Cardiomyopathy
6 M Great Britain c.[1533_1545del];[2951 T > G] p.[Ile512Thrfs*4];[Ile984Ser] 1.5 3 5 2 YES Short stature (−2.91SD) NA NA Motor delay NO NA NO
7 F Croatia c.[1042C > T];[2203_3C > G] p.[Pro348Ser];[?] 0.9 9 4 5 YES NO NA NA NO NO NA Hypotelorism
8 F Croatia c.[1042C > T];[2203_3C > G] p.[Pro348Ser];[?] 6.7 11 1 2 YES Short stature (−2.71SD) NA NA NO NO YES Erythema nodosum; Crohn’s disease
9 M Germany/ Turkey c.[1187G > A];[2330C > A] p.[Trp396*];[Pro777His] 1.8 8 1 3 YES NO NA NA NO NO NA NO
10 F United States c.[118-2A > G];[2524G > T] p.[?];[Val842Phe] 1.5 4 3 NA YES Short stature (−2.62SD) NA NA NO NO NA Episodes of mild hypoglycemia during acute illness
11 F United States c.[686dup];[3164 T > C]p.[Ser230Glnfs*4];[Leu1055Pro] 0.3 18 5 2 YES Short stature (−2.35SD) NA NA NO NO NA NO
12 M France c.[2827G > T];[exons39–40del] p.[Glu943*];[Val2145_Glu2237del] 0.6 1.8 8 0 YES Short stature (−2.48SD);
Skeletal dysplasia;
Mild hypotonia;
NA NA Optic atrophy; Left hemi-paresis; Motor delay;
Epilepsy; Hypotonia;
Hypogammaglobulinemia Yes Lymphopenia during crisis; Neuroblastoma
13 M Germany c.[1278A > C];[exons49–50del]
p.[Cys426Trp]; [Val1528Glyfs*2]
0.8 8 1 3 YES Short stature (−2.07SD) NA NA NO Hypogammaglobulinemia YES NO
14 F Germany c.[173-2A > G];[3363A > G] p.[=];[Ile1121Met] 2 16 12 1 YES NO NA NA NO NA NA NO
15 F American c.[409C > T];[1186 T > A] p.[Arg137Trp];[Trp396Arg] 1.9 5 3 NA YES Short stature (−3.5SD);
Skeletal dysplasia;
Cervical instability;
Fractures (1 skull and 1 left
femur fracture);
YES YES Motor delay Reduced natural killer cells YES NO
16 M Switzerland c.[284C > T];[850A > T] p.[Ala95Val];[Lys284Ter] 0.4 12 0 >1 YES Short stature (−3SD);
Skeletal dysplasia;
Cervical instability;
YES YES Optic atrophy Hypogammaglobulinemia;
Reduced natural killer cells
YES NO
17 F NA c.[2819A > C] p.[His940Pro] 0.3 4 ≥1 ≥1 YES Short stature NO NO NO NO NA NO
18 M Japanese c.[1018G > C];[2674 G > T] p.[Gly340Arg]; [Val892Phe] 3.3 3.5 2 0 YES Short stature NO NA NO NO YES Renal failure;
19 F China c.[1840delG]; [3596G > A] p.[Ala614Leufs*3]; [Cys1199Tyr] 0.5 0.58 1 2 YES NO YES NO NO NA NA NO
20 M China c.[6751_6754delCTCC]; [3596-G > A] p.[Leu2251Cysfs*5]; [Cys 1199Tyr] 1.2 5.4 ≥2 ≥3 YES NO NA NA NO Reduced natural killer cells YES NO
21 M China c.[7041_7043delTCT];[3759delC] p.[2347_2348delLLinsL];[Thr1254Hisfs*16] NA 0.75 NA ≥2 YES NO YES NA NO NO YES NO
22 F China c.[3596G > A];[209 + 1G > A] p.[Cys1199Tyr];[?] NA 4 NA ≥1 YES NO NO NO NO NA NA NO
23 M China c.[6611_6612insCA];[3596G > A] p.[Met2204Ifs*3];[Cys1199Tyr] 0.5 6 .9 5 3 YES Short stature (−1.42SD) NO NO NA NA NA NO
24 M China c.[3596G > A];[586C > T] p.[Cys1199Tyr];[Gln196X] 0.6 4.7 1 2 YES Short stature(−1.47SD) NO NO NA NA NA NO
25 M China c.[5389 + 1G > T];[2407G > A] p[?];[Glu803Lys] 0.5 2.3 10 1 YES NO NO NO NA NA NA NO
26 F NA c.[2827G > T];[5741G > A] p.[Glu943*];[Arg1914His] 0.7 4.9 NA ≥2 YES Short stature(−6SD);
Skeletal dysplasia;
Delayed bone maturation; Hypotonia
YES NA Optic atrophy;
Motor delay; Speech delay
Reduced B cells;
Initially neutropenia;
Hypogammaglobulinemia
YES NO
27 F Portuguese c.[680A > C];[1749G > A] p.[His227Pro];[Trp583*.] 2.8 3.9 0 2 YES Short stature; Poor muscular development; Slightly delayed bone age (18 months at 23 months of age); YES NO NO NO NA NO
28 F Portuguese c.[680A > C];[1749G > A] p.[His227Pro];[Trp583*.] 1.5 9 2 >30 YES Short stature; Low bone mineral density NO NO NO NO NA NO
29 NA NA c.[284C > T]; [2802G > A] p.[Ala95Val; [Trp934*] NA NA ≥1 NA NA Short stature; Cervical instability; Reduced bone mineral density; Muscular hypotrophy NA YES Motor delay Hypogammaglobulinemia NO High pitched voice
30 NA NA c.[812 T > C]; [812 T > C] p.[Leu271Pro]; [Leu271Pro] NA NA ≥1 NA NA Short stature; Muscular hypotonia and hypotrophy NA NO Motor delay Hypogammaglobulinemia NO Protuberant abdomen; High pitched voice
31 NA NA c.[1241C > T];[2950delA; p.[Ser414Phe];[Ile984Leufs*8] 0.2 NA ≥1 NA NA Short stature; Skeletal dysplasia; Reduced bone mineral density; Pathologic fracture; Muscular hypotonia and hypotrophy NA YES Optic atrophy Hypogammaglobulinemia YES Insulin dependent diabetes mellitus; Chronic lung disease; High pitched voice
32 NA NA c.[1241C > T];([6236 + 1_6237–1]_[6432+ 1_6433–1] del); p.[Ser414Phe]; [Glu2080*] 0.7 NA 0 ≥1 NA Short stature;
Skeletal dysplasia;
Reduced bone mineral density; Muscular hypotonia and hypotrophy
NA YES Optic atrophy; Motor delay NO YES Relative macrocephal; Decreased serum IGF1 and IGFBP3; High pitched voice
33 NA NA c.[1549C > T];[5041_5048del]; p.[Arg517Cys];[Ser1681Glnfs*37] 0.7 NA ≥1 NA NA Reduced bone mineral density; Skeletal dysplasia; Scoliosis; Pathologic fracture; Muscular hypotonia and hypotrophy NA NO NO Hypogammaglobulinemia NO Cataract and dislocation of the lens; Nephrolithiasis; High pitched voice
34 NA NA c.[1550G > A]; [6805G > T]; p.[Arg517His]; [Glu2269*] 3.0 NA ≥1 NA NA NO NA NO NO NO NO NO
35 NA NA c.[1550G > A]; [6805G > T]; p.[Arg517His]; [Glu2269*] NA NA ≥1 NA NA NO NO NO NO NO NO Preemptive family testing
36 NA NA c.[2191A > C]; [2191A > C]; p.[Thr731Pro]; [Thr731Pro] 1 NA ≥1 NA NA Short stature NO NO NO NO NO Liver transplantation
37 NA NA c.[2330C > A]; [2330C > A]; p.[Pro777His]; [Pro777His] 2.7 NA ≥1 NA NA NO NO NO NO NO NO Elevated 3-methylglutaconic in urine;
Vitamin D deficiency
38 NA NA c.[2330C > A]; [2330C > A]; p.[Pro777His]; [Pro777His] 3.2 NA ≥1 NA NA NO NO NO NO NO NO Vitamin D deficiency
39 NA NA c.[2809C > G]; ([5138 + 1_5139–1]_7116del) p.[Pro937Ala]; [?] 0.7 NA ≥1 NA NA Short stature NO NO NO NO NO NO
40 NA NA c.[2819A > C];[2819A > C]; p.[His940Pro];[His940Pro] 0.2 NA ≥1 NA NA NO NO NO NO Reduced NK cells NO NO
41 NA NA c.[2951 T > G]; [2827G > T]; p.(Ile984Ser); (Glu943*) 2.6 NA ≥1 NA NA Short stature; Skeletal dysplasia; Delayed skeletal maturation NO NO NO NO YES Precocious puberty; High pitched voice
42 NA NA c.[3164 T > C]; ([5027 + 1_5028–1] _[5724 + 1_5725–1] del); p.[Leu1055Pro]; [Glu1676Aspfs*10] 1.3 NA ≥1 NA NA NO NO NO NO Hypogammaglobulinemia NO NO
43 NA NA c.[3363A > G]; [513 + 2 T > C]; p.[Ile1121Met]; [?] 1.0 NA 0 ≥1 NA Short stature NO NO NO Hypogammaglobulinemia NO NO
44 NA NA c.[3386C > T]; [3386C > T]; p.[Ser1129Phe]; [Ser1129Phe] 2.3 NA ≥1 NA NA NO NO NO NO NO NO Elevated 3-methylglutaconic and 3-methylglutaric in urine
45 NA NA c.[3386C > T]; [3386C > T]; p.[Ser1129Phe]; [Ser1129Phe] 1.8 NA ≥1 NA NA NO NO NO NO NO NO Elevated 3- methylglutaconic and 3-methylglutaric in urine
46 NA NA c.[3534C > A];[1342-6A > G]; p.[Ser1178Arg];[?] 0.8 NA ≥1 NA NA NO NO NO NO Hypogammaglobulinemia
Reduced NK cells
NO During crisis: seizures, cholecystitis, truncal exanthema, hypophosphatemia, anemia, lymphopenia, decrease of neutrophils
47 NA NA c.[3602A > C]; [3602A > C]; p.[Gln1201Pro]; [Gln1201Pro] 0.8 NA ≥1 NA NA NO NO NO NO NO NO Liver transplantation
48 NA NA c.[5741G > A];[1528C > T]; p.[Arg1914His];[Arg510*] NA NA 0 ≥1 NA Short stature; Delayed skeletal maturation; Skeletal dysplasia; Muscular hypotonia and hypotrophy NA YES Motor delay; Intellectual disability Hypogammaglobulinemia NO NO
49 NA NA c.[5740C > G];[6877delC]; p.[Arg1914Gly]; [Leu2293Cysfs*9] 0.5 NA ≥1 NA NA Short stature; Reduced bone mineral density; Delayed skeletal maturation; Skeletal dysplasia; Muscular hypotonia and hypotrophy NA YES Motor delay; Optic atrophy Hypogammaglobulinemia YES High pitched voice
50 NA NA c.[5761G > C]; [686dupT]; p.[Ala1921Pro]; [Ser230Glnfs*4] 0.4 NA 0 ≥1 NA NA NA NO NO Hypogammaglobulinemia YES NO
51 NA NA c.[6840G > T]; [6840G > T]
p.[?];[?]
0.3 NA 0 ≥1 NA Short stature; Skeletal dysplasia; Delayed skeletal maturation NA NO Optic atrophy; Motor delay Hypogammaglobulinemia YES Rotary nystagmus; High pitched voice
52 NA NA c.[6966_6969delinsTC];[5547delC] p.[Gln2322Hisfs*18]; [Trp1850Glyfs*32] 4.5 NA 0 ≥1 NA NO NA NO Optic atrophy; Motor delay Hypogammaglobulinemia;
Reduced NK cells
NO Premature birth; Recurrent bacterial pneumonia
53 NA NA c.[767G > A];[2012 T > G];
p.[Cys256Tyr]; [Phe671Cys]
0.1 NA 0 ≥1 NA Short stature NA NA Intellectual disability;
Motor delay
NO NO NO
54 NA NA c.[2535G > T]; [5761G > C]
p.[Trp845Cys]; [Ala1921Pro]
NA NA ≥1 NA NA Short stature NA NA NO NA NO NO
55 M Italy c.[6840G > A];[686dupT]
p.[Gly2238_Thr2280del];[Ser230fsGln*4]
NA 7 0 ≥1 NA Short stature;
Skeletal dysplasia
Reduced bone mineral density;
YES NA Neurodevelopmental delay with normal intelligence Hypogammaglobulinemia YES Coeliac disease;
Congenital bilateral glaucoma; Primary hypothyroidism
56 F Italy c.[6840G > A];[1501C > T] p.[Gly2238_Thr2280del];[Arg501*] NA 4 0 ≥1 NA Short stature; Skeletal dysplasia YES NA Neurodevelopmental delay with normal intelligence Hypogammaglobulinemia YES Premature birth; Retinopathy of prematurity
  1. NA Not available, ALF Acute liver failure, LC Liver crisis;
  2. Patients 1 to 14 were published by Staufner C et al. [8]; Patients 15 to 16 were published by Segarra NG et al. [5]
  3. Patient 17 was published by Hasosah MY et al. [11]; Patient 18 was published by Ono S et al. [7]
  4. Patient 19 was published by Yucan Zheng [14]; Patient 20 was published by Xuerui Song [12]
  5. Patient 21 was published by Jiali Gu [13]; Patient 22 was published by Wang J [15]
  6. Patient 23 to 25 were published by Li JQ [9]; Patient 26 was published by Kortum [6]
  7. Patient 27 to 28 were published by Regateiro FS [16] Patient 29–54 was published by Staufner [17]
  8. Patient 55 to 56 were published by Carli [18]