Mutations

Question 1

PRSS1

Answer 1

most common hereditory cause pancreatitis

Question 2

SPINK1

Answer 2

second most common hereditory cause pancreatitis
AR

Question 3

STK11

Answer 3

Peutz Jegher
GI hamartomatous polyposis and pigmented macules on the lips/gums.

Question 4

NPHP1

Answer 4

nephronopthisis

Question 5

MCEP2

Answer 5

Rett syndrome

Question 6

RET

Answer 6

Hirschsprungs
MEN2

Question 7

SCL5A1

Answer 7

sodium glucose cotransporter
SGL1
mutations cause glucose- galactose malabsorption

Question 8

FMR1

Answer 8

fragile x

Question 9

FXN

Answer 9

friederichs ataxia

Question 10

FGFR3

Answer 10

achondroplasia

Question 11

PHOX2

Answer 11

congenital central hypoventilation
neuroblastoma
Hirschsprungs

Question 12

SCN1A

Answer 12

sodium channel
Associated with Dravet syndrome (muoclonic epilepsy of infancy)- hemiclonic, fever related seizures in 1st years of life evolving into afebrile seizures with dev delay in toddler years
- SCN1B can lead to similar
also associated with GEFS plus

Question 13

KCNQ2/KCNQ3

Answer 13

potassium channel
benign familial neonatal epilepsy OR
epileptic encephalopathy

Question 14

SCN2A

Answer 14

related to many seizures types
(1) benign neonatal or infantile epilepsies, (2) neurodevelopmental/neuropsychiatric disorders, including schizophrenia, autism and intellectual disability, (3) Infantile Spasms, and (4) early onset epileptic encephalopathies, including Ohtahara syndrome, Dravet syndrome, West syndrome and severe neonatal epilepsies

Question 15

FBN1 gene

Answer 15

Marfans

Question 16

ABCDB4

Answer 16

PFIC 3

Question 17

ABCDB11

Answer 17

PFIC2

Question 18

ATP8B1

Answer 18

PFIC 1

Question 19

JAG1

Answer 19

Allagile
most common

Question 20

NOTCH 2

Answer 20

Allagile
2nd most common

Question 21

NOD2

Answer 21

Chron’s disease

Question 22

MYO5B

Answer 22

Microvillous inclusion disease

Question 23

EPCAM

Answer 23

tufting enteropathy

Question 24

ATP7B

Answer 24

Wilson disease

Question 25

SCN5A mutation

Answer 25

Type 3 long QT syndrome
Brugada syndrome

Question 26

AIRE

Answer 26

autoimmune polyendocrinopathy candidiassis ectodrmal dystrophy (APECED)

= candidiasis
hypothyroid
adrenal failure

Question 27

RAG1

Answer 27

Omenn syndrome

Question 28

HLA DQ2/8

Answer 28

Coeliac disease

Question 29

MYC

Answer 29

neuroblastoma (c-MYC)
Burkitts lymphoma

Question 30

BCR-ABL

Answer 30

fusion gene (9,22)
Philadelphia chromosome

Question 31

ATM

Answer 31

ataxia telangiectasia

Question 32

CHD7 mutation

Answer 32

CHARGE syndrome

CHARGE = Coloboma, Heart defects, choanal Atresia, Retarded growth, GU defects, Ear anomalies – caused by mutations of CHD7 on chromosome 8q12.

Question 33

PAX2 gene

Answer 33

renal coloboma syndrome
coloboma
renal anomalies
SNHL
seizures
joint laxity

Question 34

ATP7b

Answer 34

Wilsons syndrome

Question 35

ATP7a

Answer 35

Menkes syndrome

Question 36

COL1A1

Answer 36

osteogenesis imperfecta

Question 37

FGFR3

Answer 37

achondroplasia

remember- spinal canal stenosis (hydrocephalus, foramen magnum compression) and obstructive sleep apnoea