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Clinical and molecular features of patients with COL1-related disorders: Implications for the wider spectrum and the risk of vascular complications.
Am J Med Genet A
September 2022
Department of Medical Genetics, Shinshu University School of Medicine, Matsumoto, Japan.
Abnormalities in type I procollagen genes (COL1A1 and COL1A2) are responsible for hereditary connective tissue disorders including osteogenesis imperfecta (OI), specific types of Ehlers-Danlos syndrome (EDS), and COL1-related overlapping disorder (C1ROD). C1ROD is a recently proposed disorder characterized by predominant EDS symptoms of joint and skin laxity and mild OI symptoms of bone fragility and blue sclera. Patients with C1ROD do not carry specific variants for COL1-related EDS, including classical, vascular, cardiac-valvular, and arthrochalasia types.
View Article and Find Full Text PDFA novel pathogenic variant at the C-terminal propeptide cleavage site of COL1A1, causing osteogenesis imperfecta with intrafamilial variability.
Am J Med Genet A
June 2022
Department of Human Genetics, University of Miami Miller School of Medicine, Miami, Florida, USA.
Osteogenesis imperfecta (OI) is a rare connective tissue disorder with clinical and genetic heterogeneity. The cardinal features of OI are bone fragility and low bone mineral density (BMD). Pathogenic variants in COL1A1 and COL1A2 genes, which encode the proα-1(I) and proα-2(I) chains of Type 1 collagen, are the most common causes of OI.
View Article and Find Full Text PDFEhlers-Danlos Syndrome Type Arthrochalasia: A Systematic Review.
Int J Environ Res Public Health
February 2022
Research Group CTS1068, Andalusia Research Plan, Junta de Andalucía, 18014 Granada, Spain.
Ehlers-Danlos syndrome type arthrochalasia (aEDS) is a rare genetic disease characterized by severe generalized joint hypermobility, bilateral congenital hip dislocation, skin hyperextensibility, muscle hypotonia, and mild dysmorphic features. It is an autosomal dominant connective tissue disease causing defects in collagen, associated with two genes, COL1A1 or COL1A2. Only about 42 cases have been published worldwide.
View Article and Find Full Text PDFGeneration of a COL1A2 homozygous knockout stem cell line via CRISPR/Cas9 system.
Stem Cell Res
March 2022
Key Laboratory of Remodeling-Related Cardiovascular Diseases, Ministry of Education, Beijing Anzhen Hospital, Capital Medical University, Beijing 100029, China; Beijing Institute of Heart, Lung and Blood Vessel Diseases, Beijing 100029, China. Electronic address:
Article Synopsis
- The COL1A2 gene's loss of function is linked to conditions like osteogenesis imperfecta (OI) and certain types of Ehlers-Danlos syndrome.
- Researchers created a homozygous COL1A2 human embryonic stem cell line (WAe009-A-72) using CRISPR/Cas9 to study its significance in these disorders.
- The WAe009-A-72 cell line maintained normal characteristics and showed promise for investigating the role of COL1A2 in related diseases.
Pathologic Skull Fracture in a Near-Term Neonate with Arthrochalasia Type Ehlers-Danlos Syndrome: A Case Report.
Fetal Pediatr Pathol
February 2022
Department of Pathology and Laboratory Medicine, Children's and Women's Health Centre of British Columbia, and University of British Columbia, Vancouver, British Columbia, Canada.
Arthrochalasia type Ehlers-Danlos Syndrome (EDS) is a connective tissue disease characterized by severe generalized joint hypermobility, congenital bilateral hip dislocations, and recurrent joint subluxations and dislocations. Only one study has reported bone fragility resulting in fractures. The genetic abnormality underlying this disorder is a variant in the gene causing entire or partial loss of exon 6, resulting in defective type 1 collagen synthesis.
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