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Novel GDAP1 Mutation in a Vietnamese Family with Charcot-Marie-Tooth Disease
المؤلفون المشاركون
Mai, Phuong-Thao
Le, Dong-Truc
Nguyen, Tan-Trung
Le Gia, Hoang-Linh
Nguyen Le, Trung-Hieu
Le, Minh
Do, Duc-Minh
المصدر
العدد
المجلد 2019، العدد 2019 (31 ديسمبر/كانون الأول 2019)، ص ص. 1-6، 6ص.
الناشر
Hindawi Publishing Corporation
تاريخ النشر
2019-04-24
دولة النشر
مصر
عدد الصفحات
6
التخصصات الرئيسية
الملخص EN
Background.
Mutations of GDAP1 gene cause autosomal dominant and autosomal recessive Charcot-Marie-Tooth (CMT) disease and over 80 different mutations have been identified so far.
This study analyzed the clinical and genetic characteristics of a Vietnamese CMT family that was affected by a novel GDAP1 mutation.
Methods.
We present three children of a family with progressive weakness, mild sensory loss, and absent tendon reflexes.
Electrodiagnostic analyses displayed an axonal type of neuropathy in affected patients.
Sequencing of GDAP1 gene was requested for all members of the family.
Results.
All affected individuals manifested identical clinical symptoms of motor and sensory impairments within the first three years of life, and nerve conduction study indicated the axonal degeneration.
A homozygous GDAP1 variant (c.667_671dup) was found in the three affected children as recessive inheritance pattern.
The mutation leads to a premature termination codon that shortens GDAP1 protein (p.Gln224Hisfs∗37).
Further testing showed heterozygous c.667_671dup variant in the parents.
Discussion.
Our study expands the mutational spectrum of GDAP1-related CMT disease with the new and unreported GDAP1 variant.
Alterations in GDAP1 gene should be evaluated as CMT causing variants in the Vietnamese population, predominantly axonal form of neuropathy in CMT disease.
نمط استشهاد جمعية علماء النفس الأمريكية (APA)
Mai, Phuong-Thao& Le, Dong-Truc& Nguyen, Tan-Trung& Le Gia, Hoang-Linh& Nguyen Le, Trung-Hieu& Le, Minh…[et al.]. 2019. Novel GDAP1 Mutation in a Vietnamese Family with Charcot-Marie-Tooth Disease. BioMed Research International،Vol. 2019, no. 2019, pp.1-6.
https://search.emarefa.net/detail/BIM-1127120
نمط استشهاد الجمعية الأمريكية للغات الحديثة (MLA)
Mai, Phuong-Thao…[et al.]. Novel GDAP1 Mutation in a Vietnamese Family with Charcot-Marie-Tooth Disease. BioMed Research International No. 2019 (2019), pp.1-6.
https://search.emarefa.net/detail/BIM-1127120
نمط استشهاد الجمعية الطبية الأمريكية (AMA)
Mai, Phuong-Thao& Le, Dong-Truc& Nguyen, Tan-Trung& Le Gia, Hoang-Linh& Nguyen Le, Trung-Hieu& Le, Minh…[et al.]. Novel GDAP1 Mutation in a Vietnamese Family with Charcot-Marie-Tooth Disease. BioMed Research International. 2019. Vol. 2019, no. 2019, pp.1-6.
https://search.emarefa.net/detail/BIM-1127120
نوع البيانات
مقالات
لغة النص
الإنجليزية
الملاحظات
Includes bibliographical references
رقم السجل
BIM-1127120
قاعدة معامل التأثير والاستشهادات المرجعية العربي "ارسيف Arcif"
أضخم قاعدة بيانات عربية للاستشهادات المرجعية للمجلات العلمية المحكمة الصادرة في العالم العربي
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