Genetic characteristics of Chinese patients with hemorrhagic cerebrovascular disease.

IF 0.6 4区医学 Q4 ENDOCRINOLOGY & METABOLISM Neuro endocrinology letters Pub Date : 2021-05-17 DOI:10.21203/RS.3.RS-497520/V1

Hui Zhu, Yongliang Teng, Jingyao Liu

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Abstract

BACKGROUND We investigate the clinical and genetic characteristics of hemorrhagic cerebrovascular disease in order to provide a new theoretical basis for the prevention and treatment of hereditary cerebrovascular disease. METHOD Three hereditary cerebral hemorrhage cases were analyzed retrospectively. The patients' families were surveyed, the clinical characteristics summarized, and gene polymorphisms investigated. RESULTS Among the three cases, two patients had familial cerebral cavernous hemangiomas, and genetic testing revealed a heterozygous mutation in the CCM1 gene, with a deletion of base (T) in exon 15 (c.1542delT). The last patient had hereditary cerebral hemorrhage with amyloidosis, Finnish type, and the proband, his mother, and his daughter were found to have a heterozygous G duplicate mutation at position 100 in exon 1 of the GSN gene (c.100dupG). CONCLUSIONS Future screening for genetic mutations associated with a high-risk of hereditary cerebral hemorrhage can help identify individuals at risk for this condition and thereby reduce the occurrence and progression of the disease. Such screening will further enhance the precision in preventing and treating cerebrovascular diseases.

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中国出血性脑血管病患者的遗传特征。

研究出血性脑血管病的临床和遗传学特点，为遗传性脑血管病的防治提供新的理论依据。方法回顾性分析3例遗传性脑出血病例。调查患者家庭，总结临床特点，并分析基因多态性。结果3例患者中2例患有家族性脑海绵状血管瘤，基因检测显示CCM1基因杂合突变，15外显子碱基(T)缺失(c.1542delT)。最后一例患者为遗传性脑出血伴淀粉样变性，芬兰型，先证者及其母亲、女儿在GSN基因1外显子100位发现杂合G重复突变(c.100dupG)。结论:未来筛查与遗传性脑出血高危人群相关的基因突变有助于识别有此疾病风险的个体，从而减少疾病的发生和进展。这样的筛查将进一步提高脑血管疾病防治的精准度。

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来源期刊

Neuro endocrinology letters 医学-内分泌学与代谢

CiteScore

1.00

自引率

14.30%

发文量

审稿时长

6 months

期刊介绍： Neuroendocrinology Letters is an international, peer-reviewed interdisciplinary journal covering the fields of Neuroendocrinology, Neuroscience, Neurophysiology, Neuropsychopharmacology, Psychoneuroimmunology, Reproductive Medicine, Chronobiology, Human Ethology and related fields for RAPID publication of Original Papers, Review Articles, State-of-the-art, Clinical Reports and other contributions from all the fields covered by Neuroendocrinology Letters. Papers from both basic research (methodology, molecular and cellular biology, anatomy, histology, biology, embryology, teratology, normal and pathological physiology, biophysics, pharmacology, pathology and experimental pathology, biochemistry, neurochemistry, enzymology, chronobiology, receptor studies, endocrinology, immunology and neuroimmunology, animal physiology, animal breeding and ethology, human ethology, psychology and others) and from clinical research (neurology, psychiatry and child psychiatry, obstetrics and gynecology, pediatrics, endocrinology, immunology, cardiovascular studies, internal medicine, oncology and others) will be considered. The Journal publishes Original papers and Review Articles. Brief reports, Special Communications, proved they are based on adequate experimental evidence, Clinical Studies, Case Reports, Commentaries, Discussions, Letters to the Editor (correspondence column), Book Reviews, Congress Reports and other categories of articles (philosophy, art, social issues, medical and health policies, biomedical history, etc.) will be taken under consideration.