Molecular Analysis of Vietnamese Patients with Mucopolysaccharidosis Type I
Abstract
:1. Introduction
2. Materials and Methods
2.1. Patients, Clinical Data and Biochemical Profiles
2.2. Molecular Genetic Analysis
3. Results
3.1. Clinical Characteristics
3.2. Molecular Genetic Analysis
4. Discussion
5. Conclusions
6. Limitation of the Study
Author Contributions
Funding
Institutional Review Board Statement
Informed Consent Statement
Acknowledgments
Conflicts of Interest
References
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Patient | Pt1 | Pt2 | Pt3 | Pt4 | Pt5 |
---|---|---|---|---|---|
Age of diagnosis (months) | 20 | 15 | 38 | 9 | 54 |
Age onset of the first symptoms (months) | 20 | 15 | 4 | 9 | 24 |
The first symptoms | cornea clouding | coarse face | kyphosis | kyphosis | Joint stiffness |
Coarse face | + | + | + | + | + |
Cornea clouding | + | − | + | − | + |
Joint stiffness | − | − | + | − | + |
Long bone deformation | − | − | − | − | − |
Spinal deformation | − | − | + | + | − |
Hearing loss | − | + | NA | + | + |
Valvular heart disease | + | + | + | − | − |
Inguinal or umbilical hernia | − | − | + | + | − |
Dermal melanocytosis | + | + | + | + | + |
Hepatosplenomegaly | − | − | − | − | − |
α-L-iduronidase (dried blood spots, normal >1.32 µM/h) | 0.17 | 0.06 | 0.13 | ||
α-L-iduronidase (leukocytes, normal 15.9–41.8 nmol/mg prot/h) | 0.01 | 0.43 | |||
Urine heparan sulfate (mg/mmol creatinine) | 8.26 (<0.67) | 55.44 (0.65–3.51) | 8.18 (<0.76) | ||
Urine dermatan sulfate (mg/mmol creatinine) | 11.89 (<0.24) | 14.07 (0.14–0.90) | 11.55 (<0.21) | ||
Urine keratan sulfate (mg/mmol creatinine) | 0.32 (< 0.73) | 2.08 (0.08–0.98) | 0.23 (<0.92) | ||
Urine glycosaminoglycans (mg/g creatinine) | 1106.4 (10.7–112) | 508.8 (10.7–112) | |||
Variant 1 | c.1190-10C>A | c.1190-10C>A | c.1190-10C>A | c.1862G>C | c.1190-10C>A |
Variant 2 | c.1190-10C>A | c.1190-10C>A | c.1046A>G | c.1862G>C | c.1046A>G |
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Can, N.T.B.; Tran, D.M.; Bui, T.P.; Nguyen, K.N.; Nguyen, H.H.; Nguyen, T.V.; Hwu, W.-L.; Tomatsu, S.; Vu, D.C. Molecular Analysis of Vietnamese Patients with Mucopolysaccharidosis Type I. Life 2021, 11, 1162. https://doi.org/10.3390/life11111162
Can NTB, Tran DM, Bui TP, Nguyen KN, Nguyen HH, Nguyen TV, Hwu W-L, Tomatsu S, Vu DC. Molecular Analysis of Vietnamese Patients with Mucopolysaccharidosis Type I. Life. 2021; 11(11):1162. https://doi.org/10.3390/life11111162
Chicago/Turabian StyleCan, Ngoc Thi Bich, Dien Minh Tran, Thao Phuong Bui, Khanh Ngoc Nguyen, Hoang Huy Nguyen, Tung Van Nguyen, Wuh-Liang Hwu, Shunji Tomatsu, and Dung Chi Vu. 2021. "Molecular Analysis of Vietnamese Patients with Mucopolysaccharidosis Type I" Life 11, no. 11: 1162. https://doi.org/10.3390/life11111162