Genetics

Question 1

Tuberous sclerosis

Answer 1

Autosomal dominent

Ash leaf macule
Periungual fibromas
Angiofibromas

Question 2

Neurofibromatosis 1

Answer 2

Autosomal dominant

Cafe-au-lait patches (>2.5cm)
Lisch nodules (2 or more)

Question 3

Neurofibromatosis 2

Answer 3

Autosomal dominant

Cafe-au-lait patches
Glioma/ bilateral vestibular schwannoma

Question 4

Gorlin’s Syndrome

Answer 4

Autosomal dominant

Familial cancer syndrome

Question 5

Basal cell carcinoma

Answer 5

PTCH1 gene

Hedgehog signalling pathway

Question 6

Osteogenesis imperfecta

Answer 6

Mild: Autosomal dominant
Rarer cases: Autosomal recessive

Type 1 collagen defect- brittle bone defect
blue sclera

Question 7

Achrondroplasia

Answer 7

Autosomal dominant

Question 8

Marfan’s syndrome

Answer 8

Autosomal dominant or sporadic

Fibrillin gene
Tall, long limbs, pectus excavatum, valve defects

Question 9

Ehler’s-Danlos

Answer 9

Autosomal dominant

Irregular collagen and elastic formation

Question 10

Duchenne’s/ Becker’s dystrophy

Answer 10

X linked recessive (occurs in males only)

Defect in dystophin gene
Raised CK, gower’s sign

Question 11

IPEX Syndrome

Answer 11

X-linked inheritance

FOXP3 gene
Immune dysregulation
Endocrionopathy
Enteropathy- severe diarrhoea

Question 12

Congenital adrenal hyperplasia

Answer 12

Autosomal recessive

Commonly 21-alpha hydroxylase deficiency

Question 13

MEN 1

Answer 13

Autosomal dominant
MEN 1 gene

Pituitary
Parathyroid
Pancreatic islet cells

Question 14

MEN 2

Answer 14

Autosomal dominant
RET gene

Medullary thyroid, Pheochromocytoma

Question 15

Von Hippel lindau

Answer 15

Autosomal dominant

VHL gene
Vascular tumours

Question 16

Adrenocortical hyperplasia

Answer 16

Autosomal recessive

Increased androgen production

Question 17

Donohue syndrome

Answer 17

Autosomal recessive

Severe insulin resistance
Mutations in the insulin receptor

Question 18

Rabson Mendenhall

Answer 18

Autosomal recessive

Hyperglycaemia
Hyperinsulinaemia

Question 19

Polycystic kidneys

Answer 19

Autosomal dominant- PKD1 c16, PKD2 c4

Autosomal recessive- PKDH1 c6

Question 20

Alports syndrome

Answer 20

X linked
COL4AS gene

Type IV collagen disorder
Haematuria and deafness

Question 21

Anderson Fabry’s

Answer 21

X linked, lysosomal storage

Deficiency of alpha-galactosidase A
Angiokeratomas around the umbillicus

Question 22

Medullary cystic kidney

Answer 22

Autosomal dominant

Abnormal tubules leasing to fibrosis

Question 23

Medullary sponge

Answer 23

Sporadic inheritance

Dilation of collecting ducts