Genetics

Question 1

Congenital adrenal hyperplasia

Answer 1

21alpha hydroxylase deficiency

autosomal recessive

Question 2

MEN1

Answer 2

pituitary, parathyroid, pancreatic
autosomal dominant (MEN1 gene)

Question 3

MEN2

Answer 3

medullary thyroid, phaeochromocytoma
autosomal dominant (RET gene)

Question 4

Von Hippel Lindau

Answer 4

vascular tumours
autosomal dominant (VHL gene)

Question 5

Adrenocortical hyperplasia

Answer 5

increased androgens

autosomal recessive

Question 6

Polycystic kidney disease

Answer 6

autosomal dominant –> PKD1 chromosome 16

autosomal recessive –>PKDH1 chromosome 6

Question 7

Alport’s syndrome

Answer 7

Type IV collagen disorder–> haematuria and deafness

x-linked

Question 8

Anderson’s-Fabrys

Answer 8

a-galactasidose A deficiency –> angiokeratomas + kidney dysfunction
x-linked

Question 9

Medullary cystic kidney

Answer 9

Abnormal tubules leading to fibrosis

Autosomal dominant

Question 10

Medullary sponge kidney

Answer 10

Dilatation of collecting ducts

sporadic

Question 11

Tuberous sclerosis

Answer 11

ash-leaf macules, periungal fibromas and angiomyolipomas

autosomal dominance

Question 12

Epidermolysis bullosa

Answer 12

AD, AR, new mutatio or acquired

Question 13

Neurofibromatosis 1

Answer 13

Cafe-au-lait patches, lisch nodules

Autosomal dominant

Question 14

Neurofibromatosis 2

Answer 14

cafe-au-lait, gliomas, bilateral vesticular schwannomas

Autosomal dominant

Question 15

Gorlin’s syndrome

Answer 15

multiple cancers - skin etc

Autosomal dominant

Question 16

Basal cell carcinoma

Answer 16

PTCH1 gene

hedgehog signalling pathway

Question 17

Osteogenesis imperfecta

Answer 17

T1 collagen defect
mild = AD
rare = AR

Question 18

Achondroplasia

Answer 18

Skeletal dysplasia

Autosomal dominant

Question 19

Marfan’s syndrome

Answer 19

Fibrillin gene mutation

Autosomal dominant

Question 20

Ehler’s-Danlos

Answer 20

Irregular collagen and elastin formation

Autosomal dominant

Question 21

Duchenne/ Becker’s dystrophy

Answer 21

x-linked recessive defect in dystrophin gene

Question 22

IPEX syndrome

Answer 22

immune dysregulation, endocrinopathy and enteropathy
FOXP3 gene
x linked