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Custom Bardet-Biedl Syndrome Panel

Custom Bardet-Biedl Syndrome Panel

What is Bardet-Biedl syndrome?

Bardet-Biedl syndrome (BBS) is a ciliary disease caused by genetic factors that can affect multiple system functions in humans. This syndrome is named after Georges Bardet and Arthur Biedl. BBS as a pleiotropic disease, its patients have many different clinical manifestations. The main features of the disease are mild to severe obesity, occurring at a frequency of 72-96%. Other symptoms such as retinitis pigmentosa, male hypogenitalism, complex female genitourinary malformations, hypogonadism and renal failure have also been reported. There is also evidence that cilia damage can lead to gliosis and neuroinflammation. Although BBS is an uncommon disease, its diagnosis is complicated by the fact that many of its clinical features (obesity, diabetes, high blood pressure, etc.) occur in many diseases. Therefore, effective molecular detection is the primary choice for studying the occurrence of BBS.

Disease-related gene description

Mutations in more than 20 different genes can independently produce BBS. Among them, proteins encoded by BBS1, BBS2, BBS4, BBS5, BBS7, BBS8, BBS9 and BBIP1/BBS18 interact to form a protein complex termed BBSome. Another BBS protein complex including BBS6, BBS10 and BBS12 acts as a BBSome chaperone. BBSome protein is an important component of Intraflagellar transport (IFT) in olfactory sensory neurons (OSNs). IFT is evolutionarily conserved and consists of IFT-A and IFT-B subcomplexes. It is a protein transport system that is essential for the formation and maintenance of cilia. C8ORF37 is a ciliary cytoplasmic protein that is not significantly homologous to any other human protein. C8ORF37 does not belong to any known family of proteins and its function has not been elucidated clearly. C8ORF37 is ubiquitously expressed and colocalized with tubulin in human retinal pigment epithelial cells and is responsible for the attachment of cilia to the base of the photoreceptor, which supports the close association of the C8ORF37 mutation with Bardet-Biedl syndrome. In addition, a translocation mutation in the scaffold protein HEF1 activates Aurora A kinase (AurA), which activates histone deacetylase 6 (HDAC6) to destabilize the microtubule axis and cause cilia to disintegrate.

Based on the latest research report, we have selected a variety of representative genes that are highly correlated with BBS. You can select the genes you want to detect in the panel library or customize your exclusive panel. We offer specialized targeted sequencing technologies to detect low-frequency genetic variants.

Custom Bardet-Biedl syndrome panel offers but are not limited to:

  • Amplicon sequencing by Illumina MiSeq/Ion PGM system provides unparalleled coverage uniformity so we can accurately detect small mutations in BBS-related genes.
  • Only sequencing the customizable Bardet-Biedl syndrome panel suits your requirements, increases throughput and saves costs.
  • Strict quality control throughout the pipeline workflow ensures the validity and repeatability of the sequencing.
  • In order to obtain accurate results, each detected change in gene level will be further verified.
  • Custom panel content is based on the latest research in BBS and covers all genes that may be relevant to it.
  • You can choose the panel content of interest from our customizable Bardet-Biedl syndrome library or discuss your custom Bardet-Biedl syndrome panel requirements, then we can provide you with a personalized panel.

Choose the genes that suit you from the Bardet-Biedl syndrome gene list

AHI1 ALMS1 ARL6 ARL13B
AT1 AURKA BBIP1 BBS1
BBS2 BBS4 BBS5 BBS7
BBS9 BBS10 C8ORF37 CC2D2A
CCDC28B CEP290 GNB1 HDAC6
IFT172 LZTFL1 MAK MKKS
MKS1 NPY2R NPHP1 OPA1
PNPLA6 SDCCAG8 TMEM67 TRIM32
TTC21B WDPCP

Specimen requirements of our custom Bardet-Biedl syndrome panel

  • Specimen: DNA extracted from leukocytes in whole blood (no FFPE).
  • Volume: 2 μg DNA.
  • Collection: blood is collected by routine blood collection and leukocytes are isolated for extracting DNA. DNA samples are stored in TE buffer or equivalent.
  • Container: lavender-top (EDTA) tube.

Gene panel workflow

Gene panel workflow

For more information about the Custom Bardet-Biedl Syndrome Panel or need other amplification requirements, please contact us.

References:

  1. Reho J J, et al. Smooth Muscle Cell–Specific Disruption of the BBSome Causes Vascular Dysfunction. Hypertension, 2019: HYPERTENSIONAHA. 119.13382.
  2. Lessieur E M, et al. Ciliary genes arl13b, ahi1 and cc2d2a differentially modify expression of visual acuity phenotypes but do not enhance retinal degeneration due to mutation of cep290 in zebrafish. PloS one, 2019, 14(4): e0213960.
  3. Wei Q, et al. Molecular characterization and functional analysis of leucine zipper transcription factor like 1 in zebrafish (Danio rerio). Frontiers in physiology, 2019, 10: 801.
  4. Guo D F, et al. The BBSome in POMC and AgRP Neurons is Necessary for Body Weight Regulation and Sorting of Metabolic Receptors. Diabetes, 2019: db181088.
  5. Tavares E, et al. Retrotransposon insertion as a novel mutational event in Bardet-Biedl syndrome. Molecular genetics & genomic medicine, 2019, 7(2): e00521.
* For Research Use Only. Not for use in diagnostic procedures.

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