Objective: To identify the mutation type of non-muscle myosin heavy chain 9 (MYH9) gene and investigate the clinical features of a pedigree affected with MYH9 gene-related disease.
Methods: Peripheral blood samples of the proband and his family members were collected. Routine blood tests were performed, which included platelet counting and Wright's staining to observe the granulocyte inclusions and giant platelets. PCR was used to amplify exons 2, 17, 27, 31, 39 and 41 of the MYH9 gene, and the mutation site was determined by Sanger sequencing.
Results: All patients from the pedigree presented a typical triad of thrombocytopenia, giant platelets, and inclusion bodies in leukocytes. In addition, two patients had nephritis and cataract. All affected members carried a heterozygous missense mutation of c.5521G>A (p.glu1841Lys) in exon 39 of the MYH9 gene. The same mutation was not found among healthy members of the pedigree and the controls.
Conclusion: The c.5521G>A (p.Glu1841Lys) mutation in the MYH9 gene probably underlies the MYH9-related disease in this pedigree.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.3760/cma.j.issn.1003-9406.2019.04.015 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Interpretable machine learning-driven biomarker identification and validation for Alzheimer's disease.
Sci Rep
December 2024
Zhejiang Provincial Key Laboratory of Pathophysiology, School of Medicine, Ningbo University, 818 Fenghua Road, Jiangbei District, Ningbo, China.
Alzheimer's disease (AD) is a neurodegenerative disorder characterized by limited effective treatments, underscoring the critical need for early detection and diagnosis to improve intervention outcomes. This study integrates various bioinformatics methodologies with interpretable machine learning to identify reliable biomarkers for AD diagnosis and treatment. By leveraging differentially expressed genes (DEGs) analysis, weighted gene co-expression network analysis (WGCNA), and construction of Protein-Protein Interaction (PPI) Networks, we meticulously analyzed the AD dataset from the GEO database to pinpoint Hub genes.
View Article and Find Full Text PDFNon-syndromic orofacial clefts (NSOC) are common craniofacial birth defects, and result from both genetic and environmental factors. NSOC include three major sub-phenotypes: non-syndromic cleft lip with palate (NSCLP), non-syndromic cleft lip only (NSCLO) and non-syndromic cleft palate only (NSCPO), NSCLP and NSCLO are also sometimes grouped as non-syndromic cleft lip with or without cleft palate (NSCL/P) based on epidemiology. Currently known loci only explain a limited proportion of the heritability of NSOC.
View Article and Find Full Text PDFIntraarticular Nodular Fasciitis of the Elbow Confirmed by Gene Fusion.
Int J Surg Pathol
December 2024
Department of Orthopedics, Osaka General Medical Center, Osaka, Japan.
Nodular fasciitis is a benign, usually self-limiting myofibroblastic proliferation with a predilection for the upper extremities, trunk, and head and neck, and almost all of which harbor the fusion. Since nodular fasciitis is not widely recognized to arise within the joints, it may therefore cause diagnostic confusion in this uncommon setting. We report an unusual tumor of an 11-year-old patient who presented with a 6-month history of right elbow swelling and pain.
View Article and Find Full Text PDFhsa_circ_0000520 Serves as a Prognostic Biomarker for Colorectal Cancer and Promotes in the Disease Progression.
Turk J Gastroenterol
November 2024
Department of Anorectal Surgery, Xingtai People's Hospital, Xingtai, China.
Background/aims: Colorectal cancer (CRC) constitutes one of the prevalent malignancies within the gastrointestinal tract and serves as a primary contributor to cancer-related mortalities. This investigation sought to investigate the expression and prognostic significance of hsa_circ_0000520 in CRC and to evaluate its impact on the onset of CRC.
Materials And Methods: The levels of hsa_circ_0000520 were measured via quantitative real-time polymerase chain reaction (qRTPCR).
Diagnostic and prognostic value of disulfidptosis-related genes in sepsis.
Infect Med (Beijing)
December 2024
Department of Infectious Disease, Qilu Hospital, Cheeloo College of Medicine, Shandong University, Jinan 250012, Shandong Province, China.
Article Synopsis
- Sepsis is a serious condition with high rates of illness and death, particularly in older adults and ICU patients, and a new type of cell death called disulfidptosis might play a role in its progression.
- This study utilized data from the Gene Expression Omnibus (GEO) to analyze genes linked to disulfidptosis, identify key biological pathways, and examine immune cell levels in sepsis patients.
- Researchers discovered 3,469 differentially expressed genes, with five hub genes central to sepsis processes, and developed a regulatory network showing the interaction between miRNAs and the identified hub genes, achieving high diagnostic accuracy for predicting sepsis risks.
Want AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!