Syndromes

Question 1

bloom syndrome

Answer 1

• defective DNA repair syndrome
• associated with DNA helices mutation resulting in DNA damage by alkylating agents: causes an increase in developing leukemia or lymphoma
• associated with white cell cancers
• produces sun sensitive facial rash like a lupus rash
• associated with congenital telangiectatic erythema.

Question 2

cockayne syndrome

Answer 2

• defective DNA repair (BER and NER) syndrome associated with neurodegeneration but no significant increase in cancer susceptibility
• DNA excision repair defects
• inherited DNA repair defect.
• defective excision repair

Question 3

louis-bar syndrome

Answer 3

• defective DNA repair syndrome
• associated with progressive cerebellar ataxia and telangiectasias
• inherited mutated alleles of ATM
• loss of AT gene

Question 4

hutchinson-guilford syndrome

Answer 4

• rapid aging
• lamin-A protein mutation
• inherited mutated allele of LMNA
• prelamin-A accumulation in nuclear membrane

Question 5

werner syndrome

Answer 5

• adukt onset rapid aging
• increased rate of telomere shortening
• DNA helicase mutations

Question 6

pitt-hopkins syndrome

Answer 6

-TCF4

Question 7

fanconi’s anemia

Answer 7

• bone marrow failure
• inherited mutated genes for FANC
• congenital developmental anomalies: missing thumb and forearm malformations
• pancytopenia during childhood.
• fanconi complex: affected by inherited mutated BRCA1

Question 8

xeroderma pigmentosum

Answer 8

• DNA excision repair defects
• susceptible to UV induced DNA damage
  -thymine thymine dimers, unable to repair them
  -

Question 9

turcot syndrome

Answer 9

• brain and colon cancer syndrome

Question 10

von hippel-lindau syndrome

Answer 10

• genetic

- development of retinal and CNS hemangioblastomas

Question 11

lifraumeni syndrome

Answer 11

• autosomal dominant
• inherited p53 mutations
• mutation in checkpoint kinase 2– rapid cell cycling

Question 12

trichothiodystrophy disorder

Answer 12

• brittle hair and nails

Question 13

dyskeratosis congenita

Answer 13

• defective telomerase complex associated protein
• disintergrating finger and toenails
• mutated DKC1 allele
• predisposition to bone marrow failure

Question 14

cowden syndrome

Answer 14

• inherited mutated allele of PTEN which results in multiple dermal and mucosal hamartomas

Question 15

familial adenomatous polyposis

Answer 15

APC

Question 16

lynch syndrome

Answer 16

• inherited mutated allele of MLH1 and MSH2

- biallelic dna mismatch repair mutations