ophthalmic genetics Gene500 Flashcards

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1
Q

what is anopfthalmia?

A

no discernable eye tissue

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2
Q

anophthalmia can be isolated or syndromic…​

what inheritance is common in Isolated anophthalmia?

what is the reason for anophthalmia?

A

AR

mayy be due to optic vesicle/cup to form

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3
Q

what are mutations causing anophthalmia?

A

submicroscopic delation containing SOX2 gene

3q translocation

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4
Q

SOX2 anophthalmia syndrome

A
  • learning disabilities
  • seizures
  • brain malformation
  • motor abnormalities
    • male genitalia malformations
  • facial dysmorphism
  • postnatal growth failure
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5
Q

uveal coloboma can be

isolated

or syndromic

give an exqample of syndromic

A

CHARGE syndrome

  • coloboma
  • HEART abnormalities
  • atresia choanal
  • retardation of grawth
  • genital abnormalities
  • ear abnormalities
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6
Q

what is the mutation to cause

CHARGE sd?

A
  • CHD7
  • this is required for formation of human neural crest like cells
  • migration
  • cell expression
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7
Q

what is pleiotropic?

A
  • pleiotropic effect
    • is when ONE GENE influences 2 or more unrelated phenotypes
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8
Q

what is haploinsufficiency?

A
  • 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

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9
Q

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

A

CHD7 interacts with another chromatic remodeling complex

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10
Q

gene for corneal dystrophies?

A

keratoepithelin/BIGH3

phenotypic heterogeneity

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11
Q
A
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