01A.03 · Mucoviscidose III — génétique

Cystic fibrosis III — genetics

Cas de liaison · 43 pages

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CF Genetics Overview

1Title Slide 2Course Outline

CFTR Gene, Protein & Disease

3Multi-Organ Manifestations of CF 4CFTR Gene Structure 5CFTR Protein Structure 6CFTR Tissue Expression 7Autosomal Recessive Inheritance 8Penetrance and Variable Expressivity 9Pleiotropy and Polypheny 10Population Incidence Variation 11Heterozygote Advantage Hypothesis

12Course Outline — Mutations Section 13Known CFTR Variants 14Benign Polymorphisms — gnomAD 15Benign Polymorphism Example — Val470Met 16Pathogenicity Classes 1–5 17Functional Mutation Classes I–VI 18Genotype–Phenotype Correlations 19Loss-of-Function Mutation Types

Mutation Examples

20p.Phe508del — Class II 21p.Arg117His — Class IV 22Frameshift Mutations — Class I 23Splice-Site Mutations 24Deep Intronic Mutation

Risk Calculation

25Course Outline — Risk Section 26Carrier Couple Risk (1/4)27One Carrier, One Untested Parent 28Hardy-Weinberg Equation 29Incidence, Prevalence & Frequencies 30Hardy-Weinberg Applied — One Carrier 31Consanguinity Risk 32Sibling Carrier Risk (2/3)

Genetic Testing

33Course Outline — Testing Section 34CFTR Test Methods & Costs 3532-Mutation Panel Sensitivity 36Residual Risk After Negative Test 37Bayesian Risk Calculation 38Clinical Lab Report Example

Reference Sites

39OMIM, GeneReviews, Genetics Home Reference 40OMIM Entry for CFTR 41Genetics Home Reference — CF 42GeneReviews — CF & CAVD

Learning Objectives

43Learning Objectives

01A.03Page 1CF Genetics OverviewTitle Slide

Mucoviscidose III — génétique page 1

01A.03Page 2CF Genetics OverviewCourse Outline

Mucoviscidose III — génétique page 2

01A.03Page 3CFTR Gene, Protein & DiseaseMulti-Organ Manifestations of CF

Mucoviscidose III — génétique page 3

01A.03Page 4CFTR Gene, Protein & DiseaseCFTR Gene Structure

Mucoviscidose III — génétique page 4

01A.03Page 5CFTR Gene, Protein & DiseaseCFTR Protein Structure

Mucoviscidose III — génétique page 5

01A.03Page 6CFTR Gene, Protein & DiseaseCFTR Tissue Expression

Mucoviscidose III — génétique page 6

01A.03Page 7CFTR Gene, Protein & DiseaseAutosomal Recessive Inheritance

Mucoviscidose III — génétique page 7

01A.03Page 8CFTR Gene, Protein & DiseasePenetrance and Variable Expressivity

Mucoviscidose III — génétique page 8

01A.03Page 9CFTR Gene, Protein & DiseasePleiotropy and Polypheny

Mucoviscidose III — génétique page 9

01A.03Page 10CFTR Gene, Protein & DiseasePopulation Incidence Variation

Mucoviscidose III — génétique page 10

01A.03Page 11CFTR Gene, Protein & DiseaseHeterozygote Advantage Hypothesis

Mucoviscidose III — génétique page 11

01A.03Page 12CFTR MutationsCourse Outline — Mutations Section

Mucoviscidose III — génétique page 12

01A.03Page 13CFTR MutationsKnown CFTR Variants

Mucoviscidose III — génétique page 13

01A.03Page 14CFTR MutationsBenign Polymorphisms — gnomAD

Mucoviscidose III — génétique page 14

01A.03Page 15CFTR MutationsBenign Polymorphism Example — Val470Met

Mucoviscidose III — génétique page 15

01A.03Page 16CFTR MutationsPathogenicity Classes 1–5

Mucoviscidose III — génétique page 16

01A.03Page 17CFTR MutationsFunctional Mutation Classes I–VI

Mucoviscidose III — génétique page 17

01A.03Page 18CFTR MutationsGenotype–Phenotype Correlations

Mucoviscidose III — génétique page 18

01A.03Page 19CFTR MutationsLoss-of-Function Mutation Types

Mucoviscidose III — génétique page 19

01A.03Page 20CFTR MutationsMutation Examplesp.Phe508del — Class II

Mucoviscidose III — génétique page 20

01A.03Page 21CFTR MutationsMutation Examplesp.Arg117His — Class IV

Mucoviscidose III — génétique page 21

01A.03Page 22CFTR MutationsMutation ExamplesFrameshift Mutations — Class I

Mucoviscidose III — génétique page 22

01A.03Page 23CFTR MutationsMutation ExamplesSplice-Site Mutations

Mucoviscidose III — génétique page 23

01A.03Page 24CFTR MutationsMutation ExamplesDeep Intronic Mutation

Mucoviscidose III — génétique page 24

01A.03Page 25Risk CalculationCourse Outline — Risk Section

Mucoviscidose III — génétique page 25

01A.03Page 26Risk CalculationCarrier Couple Risk (1/4)

Mucoviscidose III — génétique page 26

01A.03Page 27Risk CalculationOne Carrier, One Untested Parent

Mucoviscidose III — génétique page 27

01A.03Page 28Risk CalculationHardy-Weinberg Equation

Mucoviscidose III — génétique page 28

01A.03Page 29Risk CalculationIncidence, Prevalence & Frequencies

Mucoviscidose III — génétique page 29

01A.03Page 30Risk CalculationHardy-Weinberg Applied — One Carrier

Mucoviscidose III — génétique page 30

01A.03Page 31Risk CalculationConsanguinity Risk

Mucoviscidose III — génétique page 31

01A.03Page 32Risk CalculationSibling Carrier Risk (2/3)

Mucoviscidose III — génétique page 32

01A.03Page 33Genetic TestingCourse Outline — Testing Section

Mucoviscidose III — génétique page 33

01A.03Page 34Genetic TestingCFTR Test Methods & Costs

Mucoviscidose III — génétique page 34

01A.03Page 35Genetic Testing32-Mutation Panel Sensitivity

Mucoviscidose III — génétique page 35

01A.03Page 36Genetic TestingResidual Risk After Negative Test

Mucoviscidose III — génétique page 36

01A.03Page 37Genetic TestingBayesian Risk Calculation

Mucoviscidose III — génétique page 37

01A.03Page 38Genetic TestingClinical Lab Report Example

Mucoviscidose III — génétique page 38

01A.03Page 39Reference SitesOMIM, GeneReviews, Genetics Home Reference

Mucoviscidose III — génétique page 39

01A.03Page 40Reference SitesOMIM Entry for CFTR

Mucoviscidose III — génétique page 40

01A.03Page 41Reference SitesGenetics Home Reference — CF

Mucoviscidose III — génétique page 41

01A.03Page 42Reference SitesGeneReviews — CF & CAVD

Mucoviscidose III — génétique page 42

01A.03Page 43Learning Objectives

Mucoviscidose III — génétique page 43