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RACP paeds Qld Group > Mutations > Flashcards

Mutations Flashcards

1
Q

PRSS1

A

most common hereditory cause pancreatitis

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2
Q

SPINK1

A

second most common hereditory cause pancreatitis
AR

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3
Q

STK11

A

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

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4
Q

NPHP1

A

nephronopthisis

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5
Q

MCEP2

A

Rett syndrome

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6
Q

RET

A

Hirschsprungs
MEN2

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7
Q

SCL5A1

A

sodium glucose cotransporter
SGL1
mutations cause glucose- galactose malabsorption

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8
Q

FMR1

A

fragile x

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9
Q

FXN

A

friederichs ataxia

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10
Q

FGFR3

A

achondroplasia

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11
Q

PHOX2

A

congenital central hypoventilation
neuroblastoma
Hirschsprungs

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12
Q

SCN1A

A

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

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13
Q

KCNQ2/KCNQ3

A

potassium channel
benign familial neonatal epilepsy OR
epileptic encephalopathy

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14
Q

SCN2A

A

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

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15
Q

FBN1 gene

A

Marfans

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16
Q

ABCDB4

A

PFIC 3

17
Q

ABCDB11

A

PFIC2

18
Q

ATP8B1

A

PFIC 1

19
Q

JAG1

A

Allagile
most common

20
Q

NOTCH 2

A

Allagile
2nd most common

21
Q

NOD2

A

Chron’s disease

22
Q

MYO5B

A

Microvillous inclusion disease

23
Q

EPCAM

A

tufting enteropathy

24
Q

ATP7B

A

Wilson disease

25
Q

SCN5A mutation

A

Type 3 long QT syndrome
Brugada syndrome

26
Q

AIRE

A

autoimmune polyendocrinopathy candidiassis ectodrmal dystrophy (APECED)

= candidiasis
hypothyroid
adrenal failure

27
Q

RAG1

A

Omenn syndrome

28
Q

HLA DQ2/8

A

Coeliac disease

29
Q

MYC

A

neuroblastoma (c-MYC)
Burkitts lymphoma

30
Q

BCR-ABL

A

fusion gene (9,22)
Philadelphia chromosome

31
Q

ATM

A

ataxia telangiectasia

32
Q

CHD7 mutation

A

CHARGE syndrome

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

33
Q

PAX2 gene

A

renal coloboma syndrome
coloboma
renal anomalies
SNHL
seizures
joint laxity

34
Q

ATP7b

A

Wilsons syndrome

35
Q

ATP7a

A

Menkes syndrome

36
Q

COL1A1

A

osteogenesis imperfecta

37
Q

FGFR3

A

achondroplasia

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

RACP paeds Qld Group (46 decks)

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