Diagnosis of Joubert Syndrome 10 in a Fetus with Suspected Dandy-Walker Variant by WES: A Novel Splicing Mutation in OFD1
المؤلفون المشاركون
Li, Zhuo
Wu, Lingqian
Liang, Desheng
Linpeng, Siyuan
Liu, Jing
Pan, Jianyan
Cao, Yingxi
Teng, Yanling
المصدر
العدد
المجلد 2018، العدد 2018 (31 ديسمبر/كانون الأول 2018)، ص ص. 1-7، 7ص.
الناشر
Hindawi Publishing Corporation
تاريخ النشر
2018-11-15
دولة النشر
مصر
عدد الصفحات
7
التخصصات الرئيسية
الملخص EN
Joubert syndrome (JBTS) is a clinically and genetically heterogeneous group of ciliary diseases.
To date, 34 subtypes of JBTS have been classified due to different causative genes or extra clinical features.
Most of them are autosomal recessive, while only the subtype 10 (JBTS10) is a quite rare X-linked recessive disorder caused by OFD1 mutations with few reports.
In this study, by using whole exome sequencing (WES), a novel OFD1 splicing mutation (c.2488+2T>C) was identified in a male fetus with suspected Dandy-Walker variant (DWV) and syndactyly, for whom abnormal karyotype and pathogenic CNV have been excluded.
This mutation was inherited from the mother who has experienced two similar pregnancies before.
An abnormal skipping of exon 18 in OFD1 mRNA was confirmed by RT-PCR and sequencing.
Result from quantitative RT-PCR also showed that total OFD1 mRNA in the index fetus was significantly lower than the control.
After a combined analysis of genetic testing results and genotype-phenotype correlations, the novel mutation c.2488+2T>C in OFD1 was considered to be the genetic cause for the affected fetus.
Thus the diagnosis should be JBTS10 rather than the primary clinical diagnosis of DWV.
We report the first prenatal case of JBTS10 in Chinese population, which not only helps the family to predict recurrence risks for future pregnancies but also provides more information for understanding such a rare disease.
The results also present evidence that WES is an effective method in prenatal diagnosis for those fetuses with Joubert syndrome.
نمط استشهاد جمعية علماء النفس الأمريكية (APA)
Linpeng, Siyuan& Liu, Jing& Pan, Jianyan& Cao, Yingxi& Li, Zhuo& Wu, Lingqian…[et al.]. 2018. Diagnosis of Joubert Syndrome 10 in a Fetus with Suspected Dandy-Walker Variant by WES: A Novel Splicing Mutation in OFD1. BioMed Research International،Vol. 2018, no. 2018, pp.1-7.
https://search.emarefa.net/detail/BIM-1126297
نمط استشهاد الجمعية الأمريكية للغات الحديثة (MLA)
Li, Zhuo…[et al.]. Diagnosis of Joubert Syndrome 10 in a Fetus with Suspected Dandy-Walker Variant by WES: A Novel Splicing Mutation in OFD1. BioMed Research International No. 2018 (2018), pp.1-7.
https://search.emarefa.net/detail/BIM-1126297
نمط استشهاد الجمعية الطبية الأمريكية (AMA)
Linpeng, Siyuan& Liu, Jing& Pan, Jianyan& Cao, Yingxi& Li, Zhuo& Wu, Lingqian…[et al.]. Diagnosis of Joubert Syndrome 10 in a Fetus with Suspected Dandy-Walker Variant by WES: A Novel Splicing Mutation in OFD1. BioMed Research International. 2018. Vol. 2018, no. 2018, pp.1-7.
https://search.emarefa.net/detail/BIM-1126297
نوع البيانات
مقالات
لغة النص
الإنجليزية
الملاحظات
Includes bibliographical references
رقم السجل
BIM-1126297
قاعدة معامل التأثير والاستشهادات المرجعية العربي "ارسيف Arcif"
أضخم قاعدة بيانات عربية للاستشهادات المرجعية للمجلات العلمية المحكمة الصادرة في العالم العربي
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