Whole Exome Sequencing Identifies a Novel and a Recurrent Mutation in BBS2 Gene in a Family with Bardet-Biedl Syndrome

المؤلفون المشاركون

Zhao, Yi
Bee, Yong Mong
Chawla, Mayank

المصدر

BioMed Research International

العدد

المجلد 2015، العدد 2015 (31 ديسمبر/كانون الأول 2015)، ص ص. 1-5، 5ص.

الناشر

Hindawi Publishing Corporation

تاريخ النشر

2015-05-11

دولة النشر

مصر

عدد الصفحات

5

التخصصات الرئيسية

الطب البشري

الملخص EN

Bardet-Biedl syndrome (BBS) is a rare autosomal recessive disorder known to be caused by mutations in at least 19 BBS genes.

We report the genetic analysis of a patient with indisputable features of BBS including cardinal features such as postaxial polydactyly, retinitis pigmentosa, obesity, and kidney failure.

Taking advantage of next-generation sequencing technology, we applied whole exome sequencing (WES) with Sanger direct sequencing to the proband and her unaffected mother.

A pair of heterozygous nonsense mutations in BBS2 gene was identified in the proband, one being novel and the other recurrent.

The novel mutation, p.Y644X, resides in exon 16 and was also found in the heterozygous state in the mother.

This mutation is not currently found in the dsSNP and 1000 Genome SNP databases and is predicted to be disease causing by in silico analysis.

This study highlights the potential for a rapid and precise detection of disease causing gene using WES in genetically heterogeneous disorders such as BBS.

نمط استشهاد جمعية علماء النفس الأمريكية (APA)

Bee, Yong Mong& Chawla, Mayank& Zhao, Yi. 2015. Whole Exome Sequencing Identifies a Novel and a Recurrent Mutation in BBS2 Gene in a Family with Bardet-Biedl Syndrome. BioMed Research International،Vol. 2015, no. 2015, pp.1-5.
https://search.emarefa.net/detail/BIM-1055816

نمط استشهاد الجمعية الأمريكية للغات الحديثة (MLA)

Bee, Yong Mong…[et al.]. Whole Exome Sequencing Identifies a Novel and a Recurrent Mutation in BBS2 Gene in a Family with Bardet-Biedl Syndrome. BioMed Research International No. 2015 (2015), pp.1-5.
https://search.emarefa.net/detail/BIM-1055816

نمط استشهاد الجمعية الطبية الأمريكية (AMA)

Bee, Yong Mong& Chawla, Mayank& Zhao, Yi. Whole Exome Sequencing Identifies a Novel and a Recurrent Mutation in BBS2 Gene in a Family with Bardet-Biedl Syndrome. BioMed Research International. 2015. Vol. 2015, no. 2015, pp.1-5.
https://search.emarefa.net/detail/BIM-1055816

نوع البيانات

مقالات

لغة النص

الإنجليزية

الملاحظات

Includes bibliographical references

رقم السجل

BIM-1055816