Genetic study of the NOTCH3 gene in CADASIL patients
المؤلفون المشاركون
Tarzjani, Sayyidah Parisa Chavoshi
Fadil, Sayyid Abu al-Hasan Shahzadah
Mirzayi, Zahra
Sanati, Muhammad Husayn
المصدر
The Egyptian Journal of Medical Human Genetics
العدد
المجلد 19، العدد 4 (31 أكتوبر/تشرين الأول 2018)، ص ص. 425-427، 3ص.
الناشر
الجمعية المصرية للأمراض الوراثية
تاريخ النشر
2018-10-31
دولة النشر
مصر
عدد الصفحات
3
التخصصات الرئيسية
الموضوعات
الملخص EN
Background: Cerebral autosomal-dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a monogenic, hereditary, neurological syndrome characterized by small vessel disease (SVD), stroke, vascular cognitive impairment and dementia.
It is caused by mutations in the NOTCH3 gene, affecting the number of cysteines in the extracellular domain of the receptor, causing protein misfolding and receptor aggregation.
The pathogenic role of cysteine-sparing NOTCH3 missense mutations in patients with typical clinical CADASIL syndrome is unknown.
No therapies are available for this condition.
Objective: Genetic study of the NOTCH3 gene in CADASIL patients who were referred to the Fazeli-Sanati Genetics Laboratory.
Subjects and methods: Peripheral blood samples were collected from 10 CADASIL patients to extract genomic DNA.
DNA sequences of exons 2–8, 11–12 and 18–19, where NOTCH3 mutations are typically located; were amplified by using PCR and analyzed by direct sequencing.
Results: 11 NOTCH3 exons were analyzed.
Homozygous IVS7 + 15A>G mutation were found in five patients, Homozygous IVS7 + 16A>G mutation in one patient, Heterozygous for the Pro109Thr and Pro203His mutations in one patient, which were not reported previously.
Heterozygous C395R and R153C mutations were found in two patients.
One of the patients has no mutation in 11 analyzed NOTCH3 exons.
Conclusion: We found four novel mutations (P109T, P203H, IVS7 + 15A>G and IVS7 + 16A>G) and 2 reported NOTCH3 mutations.
Exon 4 and Intron 7 are hotspots in the patients we examined with the NOTCH3 mutations.
These findings broaden the mutational spectrum of CADASIL
نمط استشهاد جمعية علماء النفس الأمريكية (APA)
Tarzjani, Sayyidah Parisa Chavoshi& Fadil, Sayyid Abu al-Hasan Shahzadah& Sanati, Muhammad Husayn& Mirzayi, Zahra. 2018. Genetic study of the NOTCH3 gene in CADASIL patients. The Egyptian Journal of Medical Human Genetics،Vol. 19, no. 4, pp.425-427.
https://search.emarefa.net/detail/BIM-902673
نمط استشهاد الجمعية الأمريكية للغات الحديثة (MLA)
Tarzjani, Sayyidah Parisa Chavoshi…[et al.]. Genetic study of the NOTCH3 gene in CADASIL patients. The Egyptian Journal of Medical Human Genetics Vol. 19, no. 4 (Oct. 2018), pp.425-427.
https://search.emarefa.net/detail/BIM-902673
نمط استشهاد الجمعية الطبية الأمريكية (AMA)
Tarzjani, Sayyidah Parisa Chavoshi& Fadil, Sayyid Abu al-Hasan Shahzadah& Sanati, Muhammad Husayn& Mirzayi, Zahra. Genetic study of the NOTCH3 gene in CADASIL patients. The Egyptian Journal of Medical Human Genetics. 2018. Vol. 19, no. 4, pp.425-427.
https://search.emarefa.net/detail/BIM-902673
نوع البيانات
مقالات
لغة النص
الإنجليزية
الملاحظات
Includes bibliographical references : p. 427
رقم السجل
BIM-902673
قاعدة معامل التأثير والاستشهادات المرجعية العربي "ارسيف Arcif"
أضخم قاعدة بيانات عربية للاستشهادات المرجعية للمجلات العلمية المحكمة الصادرة في العالم العربي
تقوم هذه الخدمة بالتحقق من التشابه أو الانتحال في الأبحاث والمقالات العلمية والأطروحات الجامعية والكتب والأبحاث باللغة العربية، وتحديد درجة التشابه أو أصالة الأعمال البحثية وحماية ملكيتها الفكرية. تعرف اكثر