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In Vivo Modeling of the Morbid Human Genome using Danio rerio
Published on: August 24, 2013
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Functional modelling of a novel mutation in BBS5
Mohamed H Al-Hamed, Charles van Lennep, Ann Marie Hynes
1International Centre for Life, Institute of Genetic Medicine, Newcastle University, Central Parkway, Newcastle NE1 3BZ, UK. john.sayer@ncl.ac.uk.
Cilia
|February 25, 2014
Summary
A novel mutation in the BBS5 gene causes Bardet-Biedl syndrome (BBS), a genetic disorder affecting multiple organs. This mutation leads to severe eye, kidney, and heart defects in affected individuals.
Area of Science:
- Genetics
- Molecular Biology
- Developmental Biology
Background:
- Bardet-Biedl syndrome (BBS) is a genetic disorder caused by mutations in 18 known genes.
- Key features include kidney abnormalities, vision loss, and developmental issues.
Purpose of the Study:
- To identify the genetic cause of BBS in three Saudi siblings.
- To investigate the functional impact of a novel BBS5 mutation.
Main Methods:
- Genetic sequencing to identify mutations.
- Zebrafish models (morphants) to study gene function.
- Cell culture to analyze protein localization.
Main Results:
- A novel mutation (c.966dupT) in the BBS5 gene was identified in the affected siblings.
- Zebrafish morphants exhibited retinal, cardiac, and renal defects mirroring human BBS symptoms.
- The mutation caused mislocalization of the BBS5 protein, impairing its function.
Conclusions:
- The identified novel BBS5 mutation is pathogenic and causes a multisystem ciliopathy.
- This finding expands the mutational spectrum of BBS5 and its associated phenotypes.
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