![](/images/graphics-bg.png)
A Novel Missense Variant of TP63 Heterozygously Present in Split-HandFoot Malformation
المؤلفون المشاركون
Xu, Chuan
Geng, Hao
Tang, Dongdong
He, Xiaojin
Zhang, Zhiguo
المصدر
العدد
المجلد 2020، العدد 2020 (31 ديسمبر/كانون الأول 2020)، ص ص. 1-5، 5ص.
الناشر
Hindawi Publishing Corporation
تاريخ النشر
2020-11-26
دولة النشر
مصر
عدد الصفحات
5
التخصصات الرئيسية
الملخص EN
Background.
Split-hand/foot malformation (SHFM) is a severe congenital disability mainly characterized by the absence or hypoplasia of the central ray of the hand/foot.
To date, several candidate genes associated with SHFM have been identified, including TP63, DLX5, DLX6, FGFR1, and WNT10B.
Herein, we report a novel variant of TP63 heterozygously present in affected members of a family with SHFM.
Methods.
This study investigated a Chinese family, in which the proband and his son suffered from SHFM.
The peripheral blood sample of the proband was used to perform whole-exome sequencing (WES) to explore the possible genetic causes of this disease.
Postsequencing bioinformatic analyses and Sanger sequencing were conducted to verify the identified variants and parental origins on all family members in the pedigree.
Results.
By postsequencing bioinformatic analyses and Sanger sequencing, we identified a novel missense variant (NM_003722.4:c.948G>A; p.Met316Ile) of TP63 in this family that results in a substitution of methionine with isoleucine, which is probably associated with the occurrence of SHFM.
Conclusion.
A novel missense variant (NM_003722.4:c.948G>A; p.Met316Ile) of TP63 in SHFM was thus identified, which may enlarge the spectrum of known TP63 variants and also provide new approaches for genetic counselling of families with SHFM.
نمط استشهاد جمعية علماء النفس الأمريكية (APA)
Geng, Hao& Tang, Dongdong& Xu, Chuan& He, Xiaojin& Zhang, Zhiguo. 2020. A Novel Missense Variant of TP63 Heterozygously Present in Split-HandFoot Malformation. BioMed Research International،Vol. 2020, no. 2020, pp.1-5.
https://search.emarefa.net/detail/BIM-1133791
نمط استشهاد الجمعية الأمريكية للغات الحديثة (MLA)
Geng, Hao…[et al.]. A Novel Missense Variant of TP63 Heterozygously Present in Split-HandFoot Malformation. BioMed Research International No. 2020 (2020), pp.1-5.
https://search.emarefa.net/detail/BIM-1133791
نمط استشهاد الجمعية الطبية الأمريكية (AMA)
Geng, Hao& Tang, Dongdong& Xu, Chuan& He, Xiaojin& Zhang, Zhiguo. A Novel Missense Variant of TP63 Heterozygously Present in Split-HandFoot Malformation. BioMed Research International. 2020. Vol. 2020, no. 2020, pp.1-5.
https://search.emarefa.net/detail/BIM-1133791
نوع البيانات
مقالات
لغة النص
الإنجليزية
الملاحظات
Includes bibliographical references
رقم السجل
BIM-1133791
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)