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All Journal Tropical Health and Medical Research Journal
Hirotomo Saitsu
Department of Biochemistry, Hamamatsu University School of Medicine, Hamamatsu 431-3192, Japan
Religion Biochemistry, Genetics & Molecular Biology Health Professions Immunology & microbiology Medicine & Pharmacology Public Health

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COL4A1 and COL4A2 Mutations Analyses with Perinatal Arterial ?schemic Stroke Ozan Koçak; Kursat Bora Carman Bora Carman; Coskun Yarar; Hirofumi Kodera; Hirotomo Saitsu; Naomichi Matsumoto
Tropical Health and Medical Research Vol. 2 No. 1 (2020): Tropical Health And Medical Research
Publisher : Baiman Bauntung Batuah Center

Show Abstract | Download Original | Original Source | Check in Google Scholar | Full PDF (345.083 KB) | DOI: 10.35916/thmr.v0i0.14

Abstract

Perinatal arterial ischemic stroke (PAIS) is one of the frequent causes of mortality and morbidity, but its etiology remains unclear. COL4A1 and COL4A2 mutations are monogenetic causes of weakness of the basement vascular membranes resulting in cerebral small-vessel disease, cerebral hemorrhage, and porencephaly. We hypothesized that variations in the COL4A1 and COL4A2 genes cause PAIS and performed mutation screening of these genes in 17 PAIS patients by whole-exome sequencing. Clinical, demographic, and laboratory data of the 17 PAIS patients were obtained by evaluating hospital files retrospectively. Patients included in the study were invited to the clinic for COL4A1 and COL4A2 mutation analysis. Results: The patient group consisted of 13 females (76.5%) and four males (23.5%) with a mean age of 107.4 ± 11.5 months. Maternal/fetal and prothrombotic risk factors identified in 52.9% and 94.1% of the patients, respectively. Whole-exome sequencing analysis did not reveal COL4A1 and COL4A2 pathological mutations in any of the patients. Although we did not find an association between PAIS and COL4A1 and COL4A2 variations, we believe that new studies with larger patient populations may reveal such a relationship.
Co-Authors Coskun Yarar Hirofumi Kodera Kursat Bora Carman Bora Carman Naomichi Matsumoto Ozan Koçak