He had a rough breathing without obvious lung He came to the clinic with a claim of developmentĭelay by his mother. No cyanotic phenomenon was ever observed. No dermal ecchymosis or superficial lymph node enlargement was everĭetected. However, his liver function was normal at that time. Ultrasound scanning revealed that he had an enlarged liver compared to When he was 3-year-old, he suffered from pneumonia. His parents were Chinese of Han origin and were Of 36-year-old with a procedure of cesarean. Only after written informed consent had been obtained from the parentsĪ 5-year-old boy was full-term delivered by his mother at the age The development of quick and accurate genetic diagnostic tools for thisĪll procedures were approved by the Institutional Review Board of This study aimed to discover more mutationsĪnd provide data for the genetic pattern of GBA gene, which will help In Jewish descent, N370S (c.1226A>G) wasįound to be the most common mutation. Known mutations for the study of GD, and much more novel mutations Shifts alterations, and recombinant alleles. Nonsense), deletions and insertions, splice junction mutations, frame To date, more than 420 mutations haveīeen reported in GBA gene, including point mutations (missense and Gene is localized on chromosome 1q21, spans 7.6 kb and is composed of 11Įxons and ten introns.
Glycoprotein encoded by the GBA gene (GenBank accession #J03059). Mature acid -GBA is a 59 kD, 497 amino acid membrane GD Type 1 is characterized by the presence ofĬlinical or radiographic evidence of bone symptoms, hepatosplenomegaly,Īnemia, and thrombocytopenia, and the absence of primary central nervous Individuals, particularly in the liver, spleen, bone marrow, andīrain., Three major clinical forms of GD are mostlyĭistinguished by clinical manifestations, age onset, and rate of disease The accumulated substrates lead to organ damage of diseased Mutations of the geneĮncoding -GBA (GCase) cause varying degrees of decreased GCaseĪctivity.
Which mutations are known to cause the GD. Into glucose and ceramide., GBA gene is the only gene in Is responsible for the hydrolysis of glucocerebroside (glucosylceramide) Lysosomal enzyme acid -glucosidase (glucocerebrosidase ) which The clinicalĭiagnosis of GD currently relies on demonstration of a deficient Includes several clinical subtypes with a continuum of clinical findingsįrom a perinatal lethal disorder to an asymptomatic type. The overall incidence rate of theseĭiseases was approximately 1:5000. The corresponding substratesĪre then accumulated. Lysosomal storage diseases comprise a group of inherited metabolicĭiseases caused by genetic mutations that lead to enzymaticĪbnormalities in the lysosome organelle. Is a pathogenic missense mutation, which contributes to GD. Conclusion: This novel mutation (c.655A>G, p.T219A) Moreover, it also causes a reduction in GCaseĮnzyme activity.
A construct of this mutant and its compound heterozygousĬounterpart were used to measure GCase in vitro. Three-dimensional protein structure prediction of the mutation were Sequence alignments of mammalian -GBA (GCase) and Methods: Genomic DNA was obtained from peripheralīlood leukocytes of the patient and Sanger sequencing is used to Will help the development of quick and accurate genetic diagnostic toolsįor this disease. Mutations and provide data for the genetic pattern of the gene, which (glucocerebrosidase ) that results in the accumulation of Jiang, Hui-Jun.īackground: Gaucher's disease (GD) is an autosomal recessiveĭisorder caused by a deficiency of acid -glucosidase APA style: A Novel Functional Missense Mutation p.T219A in Type 1 Gaucher's Disease.A Novel Functional Missense Mutation p.T219A in Type 1 Gaucher's Disease." Retrieved from
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