Six Novel ATM Gene Variants in Sri Lankan Patients with Ataxia Telangiectasia
المؤلفون المشاركون
Pathirana, B. A. P. S.
Hettiarachchi, D.
Panchal, Hetalkumar
Rathnayaka, P. D.
Padeniya, A.
Lai, P. S.
Dissanayake, V. H. W.
المصدر
العدد
المجلد 2020، العدد 2020 (31 ديسمبر/كانون الأول 2020)، ص ص. 1-7، 7ص.
الناشر
Hindawi Publishing Corporation
تاريخ النشر
2020-12-09
دولة النشر
مصر
عدد الصفحات
7
التخصصات الرئيسية
الملخص EN
Introduction.
Ataxia telangiectasia is a rare genetic condition with an estimated prevalence of 1 in 40,000–100,000 live births.
This condition predominantly affects the nervous and immune systems.
It is characterized by progressive ataxia beginning from early childhood.
The neurological deficit associated with this condition affects one’s balance, coordination, walking, and speech and can be accompanied by chorea, myoclonus, and neuropathy.
They may also have ocular telangiectasias and high levels of blood alpha-fetoprotein (AFP).
The ataxia telangiectasia mutated gene (ATM) is associated with this condition and codes for the ATM protein which is a phosphatidylinositol 3-kinase.
This gene occupies 150 kb on chromosome 11q22–23 and contains 66 exons encoding a 13 kb transcript.
ATM is a relatively large protein with a molecular weight of 350 kDa and 3,056 amino acids.
Methods.
Four patients of Sri Lankan origin presenting with features suggestive of ataxia telangiectasia were referred to our genetics center for specialized genetic counseling and testing.
Whole-exome sequencing followed by Sanger sequencing was used to confirm the candidate variants.
Protein modeling and genotype to phenotype correlation was performed in the identified variants.
Results.
We observed 6 novel ATM gene variants in four patients with ataxia telangiectasia.
The identified variants are as follows: homozygous c.7397C > A (p.Ala2466Glu) and c.510_511delGT (p.Tyr171fs) and compound heterozygous c.5347_5350delGAAA (p.Glu1783fs), c.8137A > T (p.Arg2713∗) and c.1163A > C (p.Lys388Thr), and c.5227A > C (p.Thr1743Pro).
Variant analysis was followed by modeling of the native and altered protein structures.
Conclusion.
We report novel ATM gene variants that have implications on the molecular diagnosis of ataxia telangiectasia.
نمط استشهاد جمعية علماء النفس الأمريكية (APA)
Hettiarachchi, D.& Panchal, Hetalkumar& Pathirana, B. A. P. S.& Rathnayaka, P. D.& Padeniya, A.& Lai, P. S.…[et al.]. 2020. Six Novel ATM Gene Variants in Sri Lankan Patients with Ataxia Telangiectasia. Case Reports in Genetics،Vol. 2020, no. 2020, pp.1-7.
https://search.emarefa.net/detail/BIM-1147250
نمط استشهاد الجمعية الأمريكية للغات الحديثة (MLA)
Hettiarachchi, D.…[et al.]. Six Novel ATM Gene Variants in Sri Lankan Patients with Ataxia Telangiectasia. Case Reports in Genetics No. 2020 (2020), pp.1-7.
https://search.emarefa.net/detail/BIM-1147250
نمط استشهاد الجمعية الطبية الأمريكية (AMA)
Hettiarachchi, D.& Panchal, Hetalkumar& Pathirana, B. A. P. S.& Rathnayaka, P. D.& Padeniya, A.& Lai, P. S.…[et al.]. Six Novel ATM Gene Variants in Sri Lankan Patients with Ataxia Telangiectasia. Case Reports in Genetics. 2020. Vol. 2020, no. 2020, pp.1-7.
https://search.emarefa.net/detail/BIM-1147250
نوع البيانات
مقالات
لغة النص
الإنجليزية
الملاحظات
Includes bibliographical references
رقم السجل
BIM-1147250
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