Lecture 4: Fragile X-Syndrome

Question 1

frequency of individuals with monogenic neurodevelopmental disorders with ASD?

Answer 1

25%

Question 2

% of ASD individuals with monogenic neurodevelopmental disorders:

Answer 2

3-5%

Question 3

impairments associated with Fragile X syndrome:

Answer 3

cognitive
learning disabilities

Question 4

gender bias in fragile X syndrome

Answer 4

males more severely affected

Question 5

features of fragile X syndrome become more apparent with age - examples

Answer 5

flexible fingers
enlarged testicles

Question 6

which gene is mutated in fragile X syndrome?

Answer 6

FMR1

Question 7

consequence of mutated FMR1 gene

Answer 7

> 200 of CGG repeats

Question 8

a consequence of CGG repeats

Answer 8

no mRNA
no FMRP protein

Question 9

where is CGG repeat in FMR1?

Answer 9

5’ untranslated region

Question 10

how do FMR1 CGG repeat inhibit FMRP production

Answer 10

hypermethylation induced transcriptional silencing

Question 11

why do women present with less severe FXS symptoms?

Answer 11

random- x chromosome inactivation

Question 12

which autistic domains are seen in FXS?

Answer 12

communication and social interaction

Question 13

% of FXS meeting full autism diagnostic criteria?

Answer 13

1/3

Question 14

male vs female FXS and autism co-expression

Answer 14

more FXS males have autism than FXS females

Question 15

FXS is the most monogenic…?

Answer 15

cause of autism