Identification of a new homozygous CEP290 gene mutation in a Saudi family causing Joubert syndrome using next-generation sequencing
المؤلفون المشاركون
Abd al-Qadir, al-Badri
al-Turki, Lulwah
al-Sahlawi, Muthanna
Khamis, Khamis
Ahmad, Wasim
المصدر
Saudi Journal of Kidney Diseases and Transplantation
العدد
المجلد 30، العدد 4 (31 أغسطس/آب 2019)، ص ص. 964-968، 5ص.
الناشر
تاريخ النشر
2019-08-31
دولة النشر
السعودية
عدد الصفحات
5
التخصصات الرئيسية
الموضوعات
الملخص EN
A 19-year-old female with a learning difficulty, ataxia, and nystagmus was referred to our clinic with advanced chronic kidney disease.
Her renal biopsy revealed features of nephronophthisis (NPHP).
Magnetic resonance imaging of the brain showed “molar tooth sign.” The clinical picture was consistent with Joubert syndrome (JS).
Two of her siblings were subsequently found to have a similar condition.
Genomic material from the patient, her twin sister, and later on from parents was analyzed for deletion/duplication mutations in the NPHP1 gene using multiplex ligation-dependent probe amplification.
No genetic defect was discerned.
However, applying the emerging “Next-Generation Sequencing (NGS)” method, we identified a novel c.5704G>T mutation in exon 41 of the CEP290 gene on chromosome 12q21.
The identification of this novel mutation, that is, highly likely to be pathogenic was compatible with the diagnosis of JS.
This mutation may be included in screening and diagnostic panel.
NGS provides an excellent screening method for genetic testing.
نمط استشهاد جمعية علماء النفس الأمريكية (APA)
Abd al-Qadir, al-Badri& al-Sahlawi, Muthanna& al-Turki, Lulwah& Khamis, Khamis& Ahmad, Wasim. 2019. Identification of a new homozygous CEP290 gene mutation in a Saudi family causing Joubert syndrome using next-generation sequencing. Saudi Journal of Kidney Diseases and Transplantation،Vol. 30, no. 4, pp.964-968.
https://search.emarefa.net/detail/BIM-893799
نمط استشهاد الجمعية الأمريكية للغات الحديثة (MLA)
Ahmad, Wasim…[et al.]. Identification of a new homozygous CEP290 gene mutation in a Saudi family causing Joubert syndrome using next-generation sequencing. Saudi Journal of Kidney Diseases and Transplantation Vol. 30, no. 4 (Jul. / Aug. 2019), pp.964-968.
https://search.emarefa.net/detail/BIM-893799
نمط استشهاد الجمعية الطبية الأمريكية (AMA)
Abd al-Qadir, al-Badri& al-Sahlawi, Muthanna& al-Turki, Lulwah& Khamis, Khamis& Ahmad, Wasim. Identification of a new homozygous CEP290 gene mutation in a Saudi family causing Joubert syndrome using next-generation sequencing. Saudi Journal of Kidney Diseases and Transplantation. 2019. Vol. 30, no. 4, pp.964-968.
https://search.emarefa.net/detail/BIM-893799
نوع البيانات
مقالات
لغة النص
الإنجليزية
الملاحظات
Includes bibliographical references : p. 968
رقم السجل
BIM-893799
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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