Genes

Question 1

DMPK

Answer 1

myotonic dystrophy
type 1 - CTG trinucleotide repeat
Type 2 CCTG tetranucleotide repeat

Question 2

MECP2

Answer 2

Rett

Question 3

FMR1

Answer 3

Fragile X

Question 4

FMX

Answer 4

friedrich ataxia

Question 5

HFE

Answer 5

hemochromatosis

Question 6

C-KIT

Answer 6

gastrointestinal stromal tumors

Question 7

WT-1

Answer 7

wilms tumor

Question 8

n-myc

Answer 8

oncogene

• can lead to neuroblastoma with the most common site at adrenal glands
• but it can arise anywhere along the sympathetic chain

Question 9

c-myc

Answer 9

burkitt lymphoma

Question 10

FGFR3

Answer 10

achondroplasia

Question 11

PEX

Answer 11

zellweger syndrome - proxisome dysfunction

Question 12

ATP7a

Answer 12

menkes disease -x linked - copper dysfunction

Question 13

PMP22

Answer 13

gene duplication of PMP22 causes charcot marie tooth disease (CMT1A)

Question 14

GNAQ

Answer 14

shurg weber syndrome (V1/V2 port wine stain, retardation, epilepsy, tram track calcification)

Question 15

TSC1 or TSC2

Answer 15

tuberous sclerosis (chr 9 and 16, respectively )
HAMARTOMAS (hamartomas , mental retardation, ash leaf pigmentations, seizures blah blah )

Question 16

NF1

Answer 16

neurofibromatosis 1
regulates RAS (negatively)
- cefe spots, lisch nodules, fibromas that are cutaneous, , pheochrmomocytomas and optic gliomas

Question 17

NF2

Answer 17

2eyes 2 ears 2 parts of brain
Neurofibromatosis 2
bilateral schwannoma, meningioma and ependymoma, juvenile catarcts

Question 18

VHL

Answer 18

von hippel lindau (regulates hypoxic inducible factor 1a)
angiomas
hemangiomas
bilateral renal carcinoma 
pheochromocytoma

Question 19

SMN1

Answer 19

spinal muscuular neurodegenration

floppy babby with fasciculations - anterior hornn dead

Question 20

P63 mutation

Answer 20

Pagets disease