11 October 2019 : Clinical Research
Med Sci Monit 2019; 25:7634-7644
BACKGROUND: Lysosomal storage diseases (LSDs), a group of rare inherited metabolic disorders, result from specific lysosomal proteins deficiencies in the degradation of biomacromolecule, including over 70 different diseases, most of which are autosomal recessive. LSDs are multisystem disorders, and the clinical manifestations are usually broad and severe, involving the skeletal system, central nervous system (CNS), cardiovascular system, etc. Besides, patients with some subtypes of LSD have distinctive facial features.
MATERIAL AND METHODS: We performed next generation sequencing on 4 suspected mucopolysaccharidosis (MPS) cases to determine the genetic causes of the disease. By in vitro molecular cell assay, such as real-time polymerase chain reaction (RT-PCR) and western blot, we tested the pathogenicity of candidate variants.
RESULTS: We detected 5 novel mutations in 4 patients. The mutations were: c.211_214del and c.1270C>T in GUSB; c.1284+1C>A and c.2404C>T in GNPTAB; and c.717C>A in FUCA1). We identified a rare mucopolysaccharidosis VII patient, a rare fucosidosis patient, and 2 rare mucolipidosis II patients, one of which was an atypical patient. We also present a new pathogenic conjecture about a small deletion in GUSB.
CONCLUSIONS: Our study described rare diseases in Chinese patients and our results enrich the phenotype spectrum of related diseases, as well as mutation spectrum of related genes, which might be significant for clinical disease diagnosis and prenatal diagnosis.
Keywords: Fucosidosis, Lysosomal Storage Diseases, Mucolipidoses, Mucopolysaccharidosis VII, Base Sequence, Child, Child, Preschool, Fatal Outcome, Genetic Predisposition to Disease, Heterozygote, Homozygote, Infant, Mutation, Phenotype, Rare Diseases, Transferases (Other Substituted Phosphate Groups)
12 September 2022 : EditorialEditorial: Treatment with Dual Incretin Receptor Agonists to Maintain Normal Glucose Levels May Also Maintain Normal Weight and Control Metabolic Dysfunction-Associated Fatty Liver Disease (MAFLD)
Med Sci Monit 2022; 28:e938365
16 September 2022 : Review articleEffects of Physiotherapy on Rehabilitation and Quality of Life in Patients Hospitalized for COVID-19: A Rev...
Med Sci Monit In Press; DOI: 10.12659/MSM.938141
12 September 2022 : Clinical ResearchEffect of Vitamin D Concentration on Course of COVID-19
Med Sci Monit In Press; DOI: 10.12659/MSM.937741
29 August 2022 : Database AnalysisTranscriptome Analysis of Peripheral Blood Mononuclear Cells Response in Patients with Severe COVID-19 Reve...
Med Sci Monit 2022; 28:e937532
26 Sep 2022 : Clinical ResearchDistribution and Determinants of Plasma Homocysteine Levels in a Preconception Population: A Retrospective ...
Med Sci Monit In Press; DOI: 10.12659/MSM.937987
26 Sep 2022 : Clinical ResearchLatency and Interpeak Interval Values of Auditory Brainstem Response in 73 Individuals with Normal Hearing
Med Sci Monit In Press; DOI: 10.12659/MSM.937847
23 Sep 2022 : Review articleA Review of the Role of Ultrasound Radiomics and Its Application and Limitations in the Investigation of Th...
Med Sci Monit In Press; DOI: 10.12659/MSM.937738
Most Viewed Current Articles
30 Dec 2021 : Clinical ResearchRetrospective Study of Outcomes and Hospitalization Rates of Patients in Italy with a Confirmed Diagnosis o...
Med Sci Monit 2021; 27:e935379
13 Nov 2021 : Clinical ResearchAcceptance of COVID-19 Vaccination and Its Associated Factors Among Cancer Patients Attending the Oncology ...
Med Sci Monit 2021; 27:e932788
08 Mar 2022 : Review articleA Review of the Potential Roles of Antioxidant and Anti-Inflammatory Pharmacological Approaches for the Man...
Med Sci Monit 2022; 28:e936292