Case Report: A novel heterozygous nonsense mutation in KRIT1 cause hereditary cerebral cavernous malformation

Article Biochemistry & Molecular Biology

KRIT1 Gene in Patients with Cerebral Cavernous Malformations: Clinical Features and Molecular Characterization of Novel Variants

Claudia Ricci et al.

Summary: Cerebral cavernous malformations (CCMs) can cause symptoms such as headaches and seizures, with mutations in the KRIT1 gene accounting for a majority of familial cases and resulting in premature stop codons. Phenotypic variability and incomplete penetrance of symptoms in mutation carriers were observed among CCM patients.

JOURNAL OF MOLECULAR NEUROSCIENCE (2021)

添加到收藏夹

Review Cell Biology

Molecular Genetic Features of Cerebral Cavernous Malformations (CCM) Patients: An Overall View from Genes to Endothelial Cells

Giulia Riolo et al.

Summary: Cerebral cavernous malformations (CCMs) are vascular lesions primarily affecting microvasculature in the brain and spinal cord, with known genetic mutations causing protein dysfunction in endothelial cell adherens junctions. The three genes associated with CCM lead to loss of function, compromising vascular barrier integrity. This dysfunction can result in molecular disorganization and compromise cellular signaling within endothelial cells.

CELLS (2021)

添加到收藏夹

Article Biochemistry & Molecular Biology

Polymorphisms in genes related to oxidative stress and inflammation: Emerging links with the pathogenesis and severity of Cerebral Cavernous Malformation disease

Andrea Perrelli et al.

Summary: Cerebral Cavernous Malformation (CCM) is a genetic cerebrovascular disease characterized by abnormally enlarged and leaky capillaries, leading to seizures, neurological deficits, and intracerebral hemorrhage. It can occur sporadically or be inherited, with three identified disease genes. Genetic modifiers have been found to influence the onset and severity of the disease, with potential implications for personalized medicine strategies.

FREE RADICAL BIOLOGY AND MEDICINE (2021)

添加到收藏夹

Editorial Material Clinical Neurology

Fetal Familial Cerebral Cavernous Malformation With a Novel Heterozygous KRIT1 Variation

Dan Cheng et al.

Summary: A 37-year-old pregnant woman with right-handed numbness underwent brain MRI, which revealed cerebral cavernous malformations. Subsequent fetal MRI and sequencing identified a novel KRIT1 gene variation in both mother and baby. The mother successfully delivered a healthy baby girl via cesarean section.

NEUROLOGY (2021)

添加到收藏夹

Article Neurosciences