Endocrine Genetics 🗸

Question 1

monogenic inheritance

Answer 1

single gene aetiology
six patterns of inheritance
historically identified through familial study
mendelian disease

Question 2

six patterns of monogenic inheritance

Answer 2

Autosomal dominant
Autosomal recessive
X-linked dominant
X-linked recessive
Y-linked
Mitochondrial

Question 3

polygenic inheritance

Answer 3

multiple genes
environmental factors and genetics
looking at larger populations

Question 4

Single nucleotide variants (SNVS) result in which types of protein change?

Answer 4

missense (substitution)
nonsense (new stop codon)
splice site alteration

Question 5

small instertions and deletions (indels) result in?

Answer 5

in frame indels - gain or loss of amino acids, substitutions, or generation of premature stop codons
out of frame indels - typically results in frameshift, which can cause premature trunkation of encoded protein

Question 6

loss of function mutations can be cause by?

Answer 6

nonsense, frame shift or splice site mutations

Question 7

testing for monogenic disease?

Answer 7

test first for single gene with sanger sequencing, then use other methods to find the pathogenic varient

Question 8

Common features of patients with hereditary endocrine disease

Answer 8

young age of onset
tumour multiplicity (affecting same/different tissues)
Positive FHx
Pathognomonic clinical features (specific clinical conditions)

Question 9

Three points of identifying patients with endocrine disease

Answer 9

consider the possibility of genetic disease in a broad range of clinical presentations
careful history, in particular FHx
careful examination for subtle specific features of a disorder

Question 10

Six examples of monogenetic endocrine syndromes

Answer 10

MEN type 1 and 2
Von Hippel Lindau
Neurofibromatosis type 1
carney complex
mccune-albright syndrome
phaechromocytoma / paraganglioma