Summary

Samenvatting genetica (hoorcolleges, klinische lessen en PGO's)

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Course
Problemen Van Klinische Genetica, Verloskunde, Pediatrie En Adolescentie

Institution
Universiteit Gent (UGent)

Dit document omvat alle info uit de les en de PPT. Ook de klinische lessen en PGO's zijn hierin opgenomen. Als je tight budget bent, kan je mij een prive berichtje sturen op messenger (Liana Kirkov) en dan regelen we iets :)

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Uploaded on January 7, 2022
File latest updated on January 7, 2022
Number of pages 63
Written in 2021/2022
Type Summary

genetica
pediatrie
kind en adolescent
klinische genetica

Institution
Universiteit Gent (UGent)
Education
Geneeskunde
Course
Problemen Van Klinische Genetica, Verloskunde, Pediatrie En Adolescentie

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Genetica
Inhoud
1. Leerdoelen ....................................................................................................................................... 5
2. Algemeen......................................................................................................................................... 5
3. Zeldzame aandoening-erfelijke aandoening: situering ................................................................... 6
4. Oorzaken van erfelijke aandoeningen............................................................................................. 6
5. Wanneer denken een erfelijke aandoening? .................................................................................. 7
5.1 Dysmorfe kenmerken .............................................................................................................. 7
5.2 Neurocognitieve stoornis ........................................................................................................ 7
5.3 Clustering van symptomen ...................................................................................................... 7
5.4 Verdachte familiale anamnese ................................................................................................ 7
6. Weefsel voor genoomdiagnostiek................................................................................................... 8
7. Detectietechnieken voor DNA veranderingen ............................................................................... 8
7.1 Karyotypering .......................................................................................................................... 8
7.2 Fluorescent In Situ Hybridization (FISH) ................................................................................ 12
7.3 Array-CGH = micro-array ....................................................................................................... 13
7.4 CNV seq ................................................................................................................................. 14
7.5 Southern Blot......................................................................................................................... 14
7.6 Methylatie-specifieke PCR..................................................................................................... 15
7.7 NIPT ....................................................................................................................................... 16
7.8 Triplet-repeat PCR ................................................................................................................. 16
7.8.1 Fragile X syndroom ........................................................................................................ 16
7.9 Sanger sequencing................................................................................................................. 18
7.9.1 Achondroplasie (dwerggroei) ........................................................................................ 19
7.10 Next generation sequencing (NGS) ....................................................................................... 20
7.10.1 Targeted resequencing van gen panels ......................................................................... 21
A. Gehoorverlies .................................................................................................................... 21
B. Thoracaal AO aneurysma .................................................................................................. 21
C. Intellectual Deficit (ID)/Developmental Disorder (DD) ..................................................... 21
7.10.2 Whole exome sequencing ............................................................................................. 22
7.10.3 Whole genome sequencing ........................................................................................... 22
7.11 Casussen ................................................................................................................................ 22
7.11.1 Casus 1 ........................................................................................................................... 22
7.11.2 Casus 2 ........................................................................................................................... 23

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,8. Genetische counseling en genetische aandoeningen ................................................................... 24
8.1 Genetische counseling........................................................................................................... 24
8.2 Ziekte van Huntington (HD) ................................................................................................... 25
8.2.1 Triade van symptomen HD ................................................................................................ 26
8.2.2 Oorzaak HD ........................................................................................................................ 26
8.2.3 Genetische counseling HD ................................................................................................. 27
8.3 Alzheimer dementie (Ad) ...................................................................................................... 27
8.3.1 Soorten Ad ......................................................................................................................... 27
8.3.2 Genetisch landschap.......................................................................................................... 28
A. Ad: mendeliaanse overerving ............................................................................................ 28
B. Ad: APOE............................................................................................................................ 28
8.4 Frontotemporele dementie (FTD) en Amyotrofe Lateraal Sclerose (ALS) ............................ 29
8.4.1 Genetische achtergrond FTD en ALS ............................................................................. 29
8.4.2 Genetische testing bij FTD en ALS ................................................................................. 29
8.5 Cerebral small vessel diseases............................................................................................... 30
8.5.1 CADASIL ......................................................................................................................... 30
8.5.2 Ziekte van Fabry ............................................................................................................ 31
8.5.3 COL4A1 en COL4A2-gerelateerde aandoening.............................................................. 31
9. Oncogenetica................................................................................................................................. 32
9.1 Sporadisch vs familiaal vs hereditaire kankers ...................................................................... 33
9.1.1 Wanneer denken aan erfelijke vorm v kanker .............................................................. 33
9.1.2 Overerving erfelijke kankersyndromen ......................................................................... 33
9.2 Erfelijke kankersyndromen.................................................................................................... 34
9.2.1 Colorectaal carcinoom (CRC) ......................................................................................... 34
A. Indicaties aanwezigheid erfelijk CRC ................................................................................. 34
B. HNPCC of Lynch ................................................................................................................. 34
C. Familiale adenomateuze polyposis (FAP) .......................................................................... 35
D. Attenuated FAP (aFAP) ...................................................................................................... 36
9.2.2 Erfelijke borstkanker en eierstokkanker (HBOC) ........................................................... 36
A. Criteria voor screening ...................................................................................................... 37
B. Hoge penetratie genen...................................................................................................... 37
C. Matige penetratie genen ................................................................................................... 37
9.2.3 Neurofibromatose type 1 (NF1) .................................................................................... 38
9.2.4 Von Hippel Lindau syndroom ........................................................................................ 38
9.2.5 Li-Fraumeni syndroom................................................................................................... 38
9.2.6 Birt-Hogg-Dubé syndroom............................................................................................. 39

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, 9.3 Waarom genoomdiagnostiek ................................................................................................ 39
9.4 Besluit .................................................................................................................................... 40
10. Genetische aandoeningen ......................................................................................................... 40
10.1 Cardiogenetica....................................................................................................................... 40
10.1.1 Congenitale hartafwijkingen ......................................................................................... 40
10.1.2 Cardiomyopathieën ....................................................................................................... 40
A. Hypertrofische cardiomyopathieën .................................................................................. 40
B. Metabole Cardiomyopathieën .......................................................................................... 41
C. Gedilateerde cardiomyopathieën ..................................................................................... 41
D. Restrictieve cardiomyopathieën ....................................................................................... 41
E. Arythmogene cardiomyopathieën .................................................................................... 41
F. Mitochondriale cardiomyopathieën.................................................................................. 41
10.1.3 Chanellopathieën .......................................................................................................... 41
A. Long QT syndroom ............................................................................................................ 42
B. Brugada syndroom ............................................................................................................ 42
C. Catecholaminerge Polymorfe Ventrikel Tachycardie (CPVT) ............................................ 42
10.1.4 Genetische testing (voorgaande aandoeningen) .......................................................... 42
10.1.5 Thoracaal Aorta Aneurysma .......................................................................................... 43
10.2 Erfelijke Bindweefdelaandoeningen ..................................................................................... 43
10.2.1 Marfan syndroom, Loeys-Dietz en aanverwante syndromale FTAA (Familiale
Thoracale Aorta Aneurysma syndromen) ..................................................................................... 44
A. Marfan syndroom .............................................................................................................. 44
B. Loeys-Dietz Syndroom (LDS).............................................................................................. 45
10.2.2 Ehlers-Danlos syndromen.............................................................................................. 45
10.2.3 Osteogenesis imperfecta ............................................................................................... 46
10.2.4 Stickler syndroom .......................................................................................................... 46
10.3 Nefrogenetica ........................................................................................................................ 46
10.3.1 Chronische nierinsufficiëntie ......................................................................................... 46
10.3.2 Congenitale nierafwijkingen .......................................................................................... 47
10.3.3 Polycystische nierziekte................................................................................................. 47
A. Autosomaal dominant PKD (ADPKD) ................................................................................. 48
B. Autosomaal recessief PKD (ARPKD)................................................................................... 50
10.3.4 Alport Syndroom: collageen IV nefropathie .................................................................. 50
A. Genetica Alport ................................................................................................................. 50
B. Symptomen Alport ............................................................................................................ 51
10.4 Erfelijke thrombofilie............................................................................................................. 51

3

, 10.4.1 Genetica trombofilie ..................................................................................................... 52
10.4.2 Suggestieve teken vr erfelijke vormen v trombofilie .................................................... 52
10.4.3 Testen vr erfelijke trombofilie: wie, wanneer en waarom? .......................................... 52
10.5 Dyslipidemieën ...................................................................................................................... 53
10.5.1 Familiale hypercholesterolemie .................................................................................... 53
A. Genetica FH genen: LOF en GOF ....................................................................................... 53
B. Diagnose FH ....................................................................................................................... 53
C. Behandeling FH.................................................................................................................. 53
10.5.2 Familiale hypertriglyceridemieën .................................................................................. 54
A. Familiaal chylomicronemie syndroom .............................................................................. 54
B. Secundaire hypertriglyceridemie ...................................................................................... 54
10.6 Diabetes: MODY .................................................................................................................... 55
10.6.1 Diabetes mellitus type 1 ................................................................................................ 55
10.6.2 Diabetes mellitus type 2 ................................................................................................ 55
10.6.3 Maturity-onset diabetes of the young (MODY)............................................................. 55
11. Gentherapie............................................................................................................................... 56
11.1 Duchenne Muscular Dystrophy (DMD) ................................................................................. 56
11.1.1 Genetische ahtergrond Duchenne ................................................................................ 57
11.1.2 Therapeutische mogelijkheden DMD ............................................................................ 57
A. Read-through therapie: Ataluren (TranslarnaTM) ............................................................ 57
B. AON-gemedieerde exon skipping therapie ....................................................................... 58
C. Vector-gemedieerde gentherapie ..................................................................................... 59
D. Genome editing ................................................................................................................. 59
11.2 Spinale Musculaire Dystrofie (SMA) ...................................................................................... 59
11.3 Retinale dystrophieën ........................................................................................................... 59
11.3.1 Leber Congenital Amaurosis (LCA) ................................................................................ 60
A. RPE65-LCA (LCA2) .............................................................................................................. 60
B. CEP290-LCA (LCA10) .......................................................................................................... 60
11.4 CRISPR/cas9: genome editing................................................................................................ 61
11.4.1 Werking CRISPER/Cas .................................................................................................... 61
11.4.2 Barrières CRISPR/Cas9 ................................................................................................... 61
11.5 Genetische dienstverlening in België .................................................................................... 62

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