New Deletions in the Hermansky-Pudlak Syndrome Type 5 Gene in a Japanese Patient
Abstract
:1. Introduction
2. Case Presentation Section
3. Discussion
4. Conclusions
Supplementary Materials
Author Contributions
Funding
Conflicts of Interest
References
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Hematology | Coagulation | ||||
---|---|---|---|---|---|
WBC | 42 × 102/µL | sedimentation | 19s | ||
RBC | 409 × 104/µL | PT | 12.7s | ||
Neutrophil | 47.9% | PT-INR | 1.12 | ||
Lymphocyte | 34.8% | AP | 79% | ||
Monocyte | 12.7% | APTT | 28.6 s | ||
Eosinophil | 2.7% | fibrinogen | 271 mg/dL | ||
Basophil | 1.9% | FDP | 2.4 µg/dL | ||
HGB | 6.8 g/dL | L | D dimer | 0.8 µg/dL | |
HCT | 24.4% | L | BT | 4.5 m | |
MCV | 59.7 fL | L | |||
MCH | 16.6% | L | |||
MCHC | 27.9% | L | |||
platelet | 21.7 × 104/µL | ||||
Biochemistry | |||||
albumin | 4.2 g/dL | Na | 138 mEq/L | ||
globulin | 3.2 g/dL | K | 4.1 mEq/L | ||
amylase | 30 U/L | Cl | 103 mEq/L | ||
AST | 12 U/L | L | Ca | 9.0 mEq/L | |
ALT | 7 U/L | L | Fe | 10 µg/dL | L |
LDH | 127 U/L | ferritin | <11.0 ng/ml | ||
ALP | 117 U/L | TIBC | 393 µg/dL | L | |
γ-GTP | 10 U/L | UIBC | 383 µg/dL | ||
TP | 7.4 g/dL | CRP | 0.2 mg/dL | H | |
ALB | 4.2 g/dL | eGFR | 101 mL/min | ||
Ch-E | 152 U/L | L | hemolysis | 0 | |
blood glucose | 87 mg/dL | milky fluid | 0 | ||
BUN | 10 mg/dL | choloplania | 3 | ||
CRE | 0.57 mg/dL | ||||
CK | 23 U/L | L | |||
UA | 4.1 mg/dL | ||||
T-CHO | 153 mg/dL | ||||
TG | 110 mg/dL | ||||
T-Bil | 0.5 mg/dL | ||||
DB | 0.1 mg/dL | ||||
IB | 0.4 mg/dL |
Exon | Previously Reported Variants (1) | New Variants | ||
---|---|---|---|---|
3 | c.219G>A | |||
5 | c.285-10A>G | c.302_305del | c.434G>A | |
7 | c.719G>C | c.818_822del | del 1.4 kb | c.646_647del |
8 | c.879dup | c.888_889insA | ||
12 | c.1417C>T | c.1423del | ||
13 | c.1618C>T | c.1634+1G>A | ||
16 | c.1871T>G c.1892T>C | c.1900del c.2026_2029del | c.2219T>C | |
18 | c.2593C>T | c.2624del | ||
19 | c.2750_2751del | |||
20 | c.2926_2929dup | |||
21 | c.2979_2982del | c.3034A>G | c.3058+3A>G | c.3052del |
22 | c.3096_3098del |
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Kato, S.; Aoe, T.; Hamamoto, A.; Takemori, H.; Nishikubo, T. New Deletions in the Hermansky-Pudlak Syndrome Type 5 Gene in a Japanese Patient. Reports 2019, 2, 15. https://doi.org/10.3390/reports2020015
Kato S, Aoe T, Hamamoto A, Takemori H, Nishikubo T. New Deletions in the Hermansky-Pudlak Syndrome Type 5 Gene in a Japanese Patient. Reports. 2019; 2(2):15. https://doi.org/10.3390/reports2020015
Chicago/Turabian StyleKato, Shinya, Tsugumi Aoe, Akie Hamamoto, Hiroshi Takemori, and Toshiya Nishikubo. 2019. "New Deletions in the Hermansky-Pudlak Syndrome Type 5 Gene in a Japanese Patient" Reports 2, no. 2: 15. https://doi.org/10.3390/reports2020015