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

Bee YM, Chawla M, Zhao Y - Biomed Res Int (2015)

Bottom Line: 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.

View Article: PubMed Central - PubMed

Affiliation: Department of Endocrinology, Singapore General Hospital, Singapore 169856.

ABSTRACT
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.

No MeSH data available.


Related in: MedlinePlus

Pedigree chart of our patient's family with BBS. Results of Sanger sequencing for both the proband and her mother are shown. Father and sister's DNA were unavailable. Filled and unfilled symbols indicate affected and unaffected individuals, respectively. Squares and circles represent males and females, respectively. The arrow indicates the proband.
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fig1: Pedigree chart of our patient's family with BBS. Results of Sanger sequencing for both the proband and her mother are shown. Father and sister's DNA were unavailable. Filled and unfilled symbols indicate affected and unaffected individuals, respectively. Squares and circles represent males and females, respectively. The arrow indicates the proband.

Mentions: The study was approved by the ethics committee/institutional review board of Singapore Health Services Pte Ltd. Written informed consent was obtained from both the proband (II:2) and her mother (I:2) before the study began (Figure 1). The father (I:1) had demised and the sister (II:1) was residing overseas during the time of the study. Blood samples from the proband and her mother were collected and processed.


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

Bee YM, Chawla M, Zhao Y - Biomed Res Int (2015)

Pedigree chart of our patient's family with BBS. Results of Sanger sequencing for both the proband and her mother are shown. Father and sister's DNA were unavailable. Filled and unfilled symbols indicate affected and unaffected individuals, respectively. Squares and circles represent males and females, respectively. The arrow indicates the proband.
© Copyright Policy - open-access
Related In: Results  -  Collection

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getmorefigures.php?uid=PMC4442282&req=5

fig1: Pedigree chart of our patient's family with BBS. Results of Sanger sequencing for both the proband and her mother are shown. Father and sister's DNA were unavailable. Filled and unfilled symbols indicate affected and unaffected individuals, respectively. Squares and circles represent males and females, respectively. The arrow indicates the proband.
Mentions: The study was approved by the ethics committee/institutional review board of Singapore Health Services Pte Ltd. Written informed consent was obtained from both the proband (II:2) and her mother (I:2) before the study began (Figure 1). The father (I:1) had demised and the sister (II:1) was residing overseas during the time of the study. Blood samples from the proband and her mother were collected and processed.

Bottom Line: 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.

View Article: PubMed Central - PubMed

Affiliation: Department of Endocrinology, Singapore General Hospital, Singapore 169856.

ABSTRACT
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.

No MeSH data available.


Related in: MedlinePlus