CPPS403 - IdentifyingDiseaseGenes III - 11 Flashcards
(25 cards)
What is the focus of the course CPPS 403?
Physiological Genomics and Pharmacogenetics
What is the significance of 4q25 in relation to heart function?
Putative enhancers drive reporter expression in the heart and link 4q25 variants to PITX2.
What animal model is used to study the loss of Pitx2c?
Zebrafish.
What is Rett Syndrome primarily characterized as?
A progressive neurodevelopmental disorder.
What is the incidence of Rett Syndrome?
1 in 10,000-15,000.
At what age do children with Rett Syndrome typically begin to show symptoms?
6-18 months.
Which chromosome is linked to Rett Syndrome?
Xq28.
What is the disease gene associated with Rett Syndrome?
MECP2.
What is the function of the MECP2 protein?
A chromatin-associated protein crucial for neuronal development.
What happens to hemizygous males with MECP2 mutations?
Lethality.
What was the clinical presentation of the family with cardiac arrhythmia?
Severe fetal and neonatal arrhythmia.
Which genetic analysis technique was used to study the family with cardiac arrhythmia?
Whole-exome sequencing.
What are incidental findings in genetic testing?
Genetic variants discovered by chance that are not related to the initial reason for the test.
What guidelines exist regarding the disclosure of incidental findings?
Developed by the American College of Medical Genetics and Genomics.
What is the role of bioinformatics in whole-exome sequencing?
Predictions for the effect of variant on protein function or clinical impact.
What are the three candidate genes identified in the cardiac arrhythmia case?
- NES A>C variant, p.W1437G
- HPS6 T>G variant, p.W595G
- GATA6 A>C variant, p.H332P
What type of genetic markers were tested in mapping Rett Syndrome?
Polymorphic markers.
What is a significant characteristic of familial cases of Rett Syndrome?
Familial recurrences are rare (1%).
What is the length of the genomic region Xq28 associated with Rett Syndrome?
7.75 Mb.
What does somatic mosaicism refer to in the context of Rett Syndrome?
A broad spectrum of phenotypes despite carrying MECP2 mutations.
What is the purpose of deriving patient iPSC lines in genetics?
To study disease mechanisms and test potential therapeutics.
What does eQTL stand for?
Expression Quantitative Trait Loci.
What is the impact of X-inactivation on Rett Syndrome?
Skewed X-inactivation affects the expression of MECP2.
What does the term ‘proband’ refer to in genetic studies?
The affected individual being studied.
