تفاصيل الوثيقة
|
نوع الوثيقة |
: |
مقال في مجلة دورية |
|
عنوان الوثيقة |
: |
Copy number variations in Saudi family with intellectual disability and epilepsy Copy number variations in Saudi family with intellectual disability and epilepsy |
|
لغة الوثيقة |
: |
الانجليزية |
|
المستخلص |
: |
Background: Epilepsy is genetically complex but common brain disorder of the world affecting millions of people
with almost of all age groups. Novel Copy number variations (CNVs) are considered as important reason for the
numerous neurodevelopmental disorders along with intellectual disability and epilepsy. DNA array based studies
contribute to explain a more severe clinical presentation of the disease but interoperation of many detected CNVs
are still challenging.
Results: In order to study novel CNVs with epilepsy related genes in Saudi family with six affected and two normal
individuals with several forms of epileptic seizures, intellectual disability (ID), and minor dysmorphism, we
performed the high density whole genome Agilent sure print G3 Hmn CGH 2x 400 K array-CGH chips analysis. Our
results showed de novo deletions, duplications and deletion plus duplication on differential chromosomal regions in
the affected individuals that were not shown in the normal fathe and normal kids by using Agilent CytoGenomics
3.0.6.6 softwear. Copy number gain were observed in the chromosome 1, 16 and 22 with LCE3C, HPR, GSTT2,
GSTTP2, DDT and DDTL genes respectively whereas the deletions observed in the chromosomal regions 8p23-p21
(4303127–4337759) and the potential gene in this region is CSMD1 (OMIM: 612279). Moreover, the array CGH results
deletions and duplication were also validated by using primer design of deleted regions utilizing the flanked SNPs
using simple PCR and also by using quantitative real time PCR.
Conclusions: We found some of the de novo deletions and duplication in our study in Saudi family with
intellectual disability and epilepsy. Our results suggest that array-CGH should be used as a first line of genetic test
for epilepsy except there is a strong indication for a monogenic syndrome. The advanced high through put
array-CGH technique used in this study aim to collect the data base and to identify new mechanisms describing
epileptic disorder, may help to improve the clinical management of individual cases in decreasing the burden of
epilepsy in Saudi Arabia. |
|
ردمد |
: |
1471-2164 |
|
اسم الدورية |
: |
BMC genomics |
|
المجلد |
: |
17 |
|
العدد |
: |
9 |
|
سنة النشر |
: |
1437 هـ
2016 م |
|
نوع المقالة |
: |
مقالة علمية |
|
تاريخ الاضافة على الموقع |
: |
Thursday, July 20, 2017 |
|
الباحثون
| Muhammad I Naseer | Naseer, Muhammad I | باحث | دكتوراه | |
| Adeel G Chaudhary | Chaudhary, Adeel G | باحث | دكتوراه | |
| Adeel G Chaudhary | Chaudhary, Adeel G | باحث | دكتوراه | |
| Mahmood Rasool | Rasool, Mahmood | باحث | دكتوراه | |
| Gauthaman Kalamegam | Kalamegam, Gauthaman | باحث | دكتوراه | |
| Fai T Ashgan | Ashgan, Fai T | باحث | دكتوراه | |
| Mourad Assidi | Assidi, Mourad | باحث | دكتوراه | |
| Farid Ahmed | Ahmed, Farid | باحث | دكتوراه | |
| Shakeel A Ansari | Ansari, Shakeel A | باحث | دكتوراه | |
| Syed Kashif Zaidi | Zaidi, Syed Kashif | باحث | دكتوراه | |
| Mohammed M. Jan | Jan, Mohammed M. | باحث | دكتوراه | |
| Mohammad H. Al-Qahtani | Al-Qahtani, Mohammad H. | باحث | دكتوراه | |
|
الرجوع إلى صفحة الأبحاث
|