ophthalmic genetics Gene500

Question 1

what is anopfthalmia?

Answer 1

no discernable eye tissue

Question 2

anophthalmia can be isolated or syndromic…​

what inheritance is common in Isolated anophthalmia?

what is the reason for anophthalmia?

Answer 2

AR

mayy be due to optic vesicle/cup to form

Question 3

what are mutations causing anophthalmia?

Answer 3

submicroscopic delation containing SOX2 gene

3q translocation

Question 4

SOX2 anophthalmia syndrome

Answer 4

• learning disabilities
• seizures
• brain malformation
• motor abnormalities
  
  • male genitalia malformations
• facial dysmorphism
• postnatal growth failure

Question 5

uveal coloboma can be

isolated

or syndromic

give an exqample of syndromic

Answer 5

CHARGE syndrome

• coloboma
• HEART abnormalities
• atresia choanal
• retardation of grawth
• genital abnormalities
• ear abnormalities

Question 6

what is the mutation to cause

CHARGE sd?

Answer 6

• CHD7
• this is required for formation of human neural crest like cells
• migration
• cell expression

Question 7

what is pleiotropic?

Answer 7

• pleiotropic effect
  
  • is when ONE GENE influences 2 or more unrelated phenotypes

Question 8

what is haploinsufficiency?

Answer 8

• is a phenotype that occurs when
  
  • a diploid organism has LOST ONE COPY of a gene

its the opposite of haplosufficiency (like in females of XLRS

Question 9

by what mechanism could haploinsuficiency for a chromatin protein cause CHARGE?

Answer 9

CHD7 interacts with another chromatic remodeling complex

Question 10

gene for corneal dystrophies?

Answer 10

keratoepithelin/BIGH3

phenotypic heterogeneity