Genes

Question 1

MEN1 gene

Answer 1

Encodes menin (tumour suppressor)
Location 11q13
Mutation leads to MEN1

Question 2

PHOX2B and ALK genes

Answer 2

Familial neuroblastoma

Question 3

CYP21 gene

Answer 3

Location 6p21.3
Encodes 21-hydroxylase
Deficiency leads to congenital adrenal hyperplasia (most common cause)
Other genes causing CAH: CYP11B1, CYP17, HSD3B2, STAR, POR

Question 4

RET gene

Answer 4

Proto-oncogene
Tyrosine kinase
Location: 10q11.2
Activating mutations cause MEN2