MOA of genes 1

Question 1

Li-Fraumeni syndrome

Answer 1

familial tumor syndrome caused by mutations in the tumor suppressor gene p53 (INACTIVATING MUTATION) thus get uncontrolled tumor growth

Question 2

Piebaldism

Answer 2

C-KIT (proto-oncogene). KIT is involved in melanocyte development. In piebaldism there is loss of function of KIT protein disrupting the growth, division, migration of melanocytes

Question 3

Waardenburg syndrome

Answer 3

PAX3: DNA binding protein involved in neurogenesis
SOX10: transcription factor involved in neural crest development
MITF: Encodes for transcription factor
PAX3 and SOX10 bind MITF. WHen mutated tyrosinase is inactivated and melanocyte differentiated is halted

Question 4

Cockayne syndrome

Answer 4

ERCC8/ERCC6: defect in excision repair. Unable to repair cyclobutane pyrimidine dimer. Increased chromosomal breaks

Question 5

Homocysteinuria

Answer 5

cystathionine beta synthase (results in increase homocysteine and methionine). Involved in pathway of using vitamin B6 to convert serine and homocysteine to cytathionine

Question 6

Werner syndrome

Answer 6

Defect in RECQL2, defect in DNA helicase: allow for separate of DNA for copying

Question 7

Bjornstad Syndrome

Answer 7

BCS1L: altered assembly of mitochondrial respirasome

Question 8

Fabry Disease

Answer 8

Alpha-galactsidose A: error is glycosphingolipid metabolism

Question 9

Cornelia De Lange

Answer 9

Nipped beta like Gene: Defect in Cohesion, we prevents adherence to sister chromatids for repair

Question 10

Hartnup disease

Answer 10

SLC6A19: mediates epithelial resorption of neutral amino acids across the apical membrane in the kidney and intestine

Question 11

Von Hippel Lindau

Answer 11

he protein products of the VHL gene play a role in the oxygen-sensing pathway, in microtubule stability and orientation, tumor suppression, cilia formation, regulation of senescence, cytokine signaling, collagen IV, regulation, and assembly of a normal extracellular fibronectin matrix

Question 12

McCune- Albright

Answer 12

GNAS1

Question 13

Papillon-Levefre

Answer 13

Cathepsin C: lysosomal protease capable of removing dipeptides from the amino terminus of protein substrates

Question 14

Muir Torre

Answer 14

MLH1, MSH2

Question 15

CHILD syndrome

Answer 15

inactivating mutation in NSDHL (NADPH steroid hydrogenase like protein) defect which encodes 3-­‐beta-­‐hydroxysteriod-­‐dehydrognease, needed for conversion of progresterone to pregnelone/ cholesterol synthesis

Question 16

Conradi-Hunermann Syndrome (XLD)

Answer 16

EBP gene, encode 3-beta-hydroxysteroid isomerase

Question 17

XLR Chondrodysplasia Punctata

Answer 17

Arylsulfatase E, catalyze the hydrolysis of sulfate esters

Question 18

Dyskeratosis congenita

Answer 18

Dyskerin, DKC1, component of the telomerase complex. Dyskerin is a nuclear protein that is responsible for some early steps in ribosomal RNA processing

Question 19

Rubenstein-Taybi

Answer 19

CREB-binding protein, responsible for encoding a nuclear protein which acts as a co-activator of cAMP regulated gene expression

Question 20

Milroy Disease

Answer 20

FLT4 gene: FLT4 gene provides instructions for producing a protein called vascular endothelial growth factor receptor 3 (VEGFR-3), which regulates the development and maintenance of the lymphatic system