Objective: To explore the genetic basis for a child with congenital disorder of glycosylation type 1y (CDG-1y) in conjunct with congenital dysplasia of external auditory canal.
Methods: Trio-whole exome sequencing (trio-WES) was carried out for the family. Candidate variant was verified by Sanger sequencing. Pathogenicity of the variant was predicted with a variety of bioinformatic tools.
Results: The proband, a 10-years-old boy, presented with mental retardation, microcephaly and dysplasia of external auditory canal. Trio-WES revealed that he has harbored a de novo frameshift variant c.302dupC (p.Y102Lfs*2) in exon 4 of SSR4 gene, which was unreported previously (PS2). The variant was absent in major allele frequency databases (PM2) and was predicted to be pathogenic by multiple bioinformatic tools (PP3). UCSF chimera software suggested that the c.302dupC (p.Y102Lfs*2) variant can induce significant alteration to the structure of SSR4 protein, resulting loss of function (PVS1+PM1). Based on the guidelines from the American College of Medical Genetics and Genomics, the variant was classified as pathogenic (PVS1+PS2+PM1+PM2+PP3).
Conclusion: The de novo frameshift variant c.302dupC (p.Y102Lfs*2) of the SSR4 gene probably underlay the child's condition. Above finding has enriched the spectrum of SSR4 mutations and the phenotypic spectrum of CDG-1y.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.3760/cma.j.cn511374-20210205-00114 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Intron retention caused by a canonical splicing variant in SSR4-related congenital disorder of glycosylation.
J Hum Genet
December 2024
Department of Neurology, Qilu Hospital of Shandong University (Qingdao), Qingdao, Shandong, China.
Congenital disorder of glycosylation type Iy (CDG-Iy) is an X-linked monogenic inherited disease caused by variants in the SSR4 gene. To date, a total of 11 variants have been identified in 14 CDG-Iy patients. Our study identified a novel canonical splicing variant, c.
View Article and Find Full Text PDFAGTR1: a potential biomarker associated with the occurrence and prognosis of lung adenocarcinoma.
Front Oncol
October 2024
College of Life Science/Institute of Molecular Medicine, Zhejiang Chinese Medical University, Hangzhou, Zhejiang, China.
Introduction: Lung adenocarcinoma, a disease with complex pathogenesis, high mortality and poor prognosis, is one of the subtypes of lung cancer. Hence, it is very crucial to find novel biomarkers as diagnostic and therapeutic targets for LUAD.
Methods: GSE10072 was used for DEGs and WGCNA, and the intersection genes were subjected to enrichment analysis through Metascape and GSEA.
Network of Interactions between the Mut Domains of the E2 Protein of Atypical Porcine Pestivirus and Host Proteins.
Genes (Basel)
July 2024
College of Veterinary Medicine, Yunnan Agricultural University, Kunming 650201, China.
Atypical porcine pestivirus (APPV) can cause congenital tremor type A-II in neonatal piglets, posing a significant threat to swine herd health globally. Our previous study demonstrated that the Mut domains, comprising 112 amino acids at the N-terminus, are the primary functional regions of the E2 protein of APPV. This study identified 14 host cellular proteins that exhibit potential interactions with the Mut domains of the E2 protein using yeast two-hybrid screening.
View Article and Find Full Text PDFA novel variant associated with congenital disorder of glycosylation: a case report and related analysis.
Front Genet
July 2024
Department of Neonatology, Children's Hospital of Soochow University, Suzhou, China.
Introduction: Congenital disorders of glycosylation (CDG) refer to monogenetic diseases characterized by defective glycosylation of proteins or lipids causing multi-organ disorders. Here, we investigate the clinical features and genetic variants of -CDG and conduct a preliminary investigation of its pathogenesis.
Methods: We retrospectively report the clinical data of a male infant with early life respiratory distress, congenital diaphragmatic eventration, cosmetic deformities, and moderate growth retardation.
SSR4-CDG, an ultra-rare X-linked congenital disorder of glycosylation affecting the TRAP complex: Review of 22 affected individuals including the first adult patient.
Mol Genet Metab
July 2024
Department of Clinical Genomics, Mayo Clinic, Rochester, MN, USA; Department of Genetic and Genomic Sciences, The Icahn School of Medicine at Mount Sinai, NY, USA.
Congenital disorders of glycosylation (CDG) are a group of rare, often multi-systemic genetic disorders that result from disturbed protein and lipid glycosylation. SSR4-CDG is an ultra-rare, comparably mild subtype of CDG, presenting mostly in males. It is caused by pathogenic variants in the SSR4 gene, which is located on the X chromosome.
View Article and Find Full Text PDFWant 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!