![](/images/graphics-bg.png)
A Novel, Homozygous c.1502T>G (p.Val501Gly) Mutation in the Thyroid peroxidase Gene in Malaysian Sisters with Congenital Hypothyroidism and Multinodular Goiter
المؤلفون المشاركون
Lee, Ching Chin
Heh, Choon Han
Jalaludin, Muhammad Yazid
Othman, Rozana
Mat Junit, Sarni
Harun, Fatimah
المصدر
International Journal of Endocrinology
العدد
المجلد 2013، العدد 2013 (31 ديسمبر/كانون الأول 2013)، ص ص. 1-7، 7ص.
الناشر
Hindawi Publishing Corporation
تاريخ النشر
2013-04-29
دولة النشر
مصر
عدد الصفحات
7
التخصصات الرئيسية
الملخص EN
Congenital hypothyroidism (CH) with multinodular goiter (MNG) is uncommonly seen in children.
However, CH associated with goiter is often caused by defective Thyroid peroxidase (TPO) gene.
In this study, we screened for mutation(s) in the TPO gene in two siblings with CH and MNG and their healthy family members.
The two sisters, born to consanguineous parents, were diagnosed with CH during infancy and received treatment since then.
They developed MNG during childhood despite adequate L-thyroxine replacement and negative thyroid antibody screening.
PCR-amplification of all exons using flanking primers followed by DNA sequencing revealed that the two sisters were homozygous for a novel c.1502T>G mutation.
The mutation is predicted to substitute valine for glycine at a highly conserved amino acid residue 501 (p.Val501Gly).
Other healthy family members were either heterozygotes or mutation-free.
The mutation was not detected in 50 healthy unrelated individuals.
In silico analyses using PolyPhen-2 and SIFT predicted that the p.Val501Gly mutation is functionally “damaging.” Tertiary modeling showed structural alterations in the active site of the mutant TPO.
In conclusion, a novel mutation, p.Val501Gly, in the TPO gene was detected expanding the mutation spectrum of TPO associated with CH and MNG.
نمط استشهاد جمعية علماء النفس الأمريكية (APA)
Lee, Ching Chin& Harun, Fatimah& Jalaludin, Muhammad Yazid& Heh, Choon Han& Othman, Rozana& Mat Junit, Sarni. 2013. A Novel, Homozygous c.1502T>G (p.Val501Gly) Mutation in the Thyroid peroxidase Gene in Malaysian Sisters with Congenital Hypothyroidism and Multinodular Goiter. International Journal of Endocrinology،Vol. 2013, no. 2013, pp.1-7.
https://search.emarefa.net/detail/BIM-513878
نمط استشهاد الجمعية الأمريكية للغات الحديثة (MLA)
Lee, Ching Chin…[et al.]. A Novel, Homozygous c.1502T>G (p.Val501Gly) Mutation in the Thyroid peroxidase Gene in Malaysian Sisters with Congenital Hypothyroidism and Multinodular Goiter. International Journal of Endocrinology No. 2013 (2013), pp.1-7.
https://search.emarefa.net/detail/BIM-513878
نمط استشهاد الجمعية الطبية الأمريكية (AMA)
Lee, Ching Chin& Harun, Fatimah& Jalaludin, Muhammad Yazid& Heh, Choon Han& Othman, Rozana& Mat Junit, Sarni. A Novel, Homozygous c.1502T>G (p.Val501Gly) Mutation in the Thyroid peroxidase Gene in Malaysian Sisters with Congenital Hypothyroidism and Multinodular Goiter. International Journal of Endocrinology. 2013. Vol. 2013, no. 2013, pp.1-7.
https://search.emarefa.net/detail/BIM-513878
نوع البيانات
مقالات
لغة النص
الإنجليزية
الملاحظات
Includes bibliographical references
رقم السجل
BIM-513878
قاعدة معامل التأثير والاستشهادات المرجعية العربي "ارسيف Arcif"
أضخم قاعدة بيانات عربية للاستشهادات المرجعية للمجلات العلمية المحكمة الصادرة في العالم العربي
![](/images/ebook-kashef.png)
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
![](/images/kashef-image.png)