ophthalmic genetics Gene500 Flashcards
what is anopfthalmia?
no discernable eye tissue
anophthalmia can be isolated or syndromic…
what inheritance is common in Isolated anophthalmia?
what is the reason for anophthalmia?
AR
mayy be due to optic vesicle/cup to form
what are mutations causing anophthalmia?
submicroscopic delation containing SOX2 gene
3q translocation
SOX2 anophthalmia syndrome
- learning disabilities
- seizures
- brain malformation
- motor abnormalities
- male genitalia malformations
- facial dysmorphism
- postnatal growth failure
uveal coloboma can be
isolated
or syndromic
give an exqample of syndromic
CHARGE syndrome
- coloboma
- HEART abnormalities
- atresia choanal
- retardation of grawth
- genital abnormalities
- ear abnormalities
what is the mutation to cause
CHARGE sd?
- CHD7
- this is required for formation of human neural crest like cells
- migration
- cell expression
what is pleiotropic?
- pleiotropic effect
- is when ONE GENE influences 2 or more unrelated phenotypes
what is haploinsufficiency?
- 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
by what mechanism could haploinsuficiency for a chromatin protein cause CHARGE?
CHD7 interacts with another chromatic remodeling complex
gene for corneal dystrophies?
keratoepithelin/BIGH3
phenotypic heterogeneity