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What exogenous causes are there for congential defects?
Teratogens
i) drugs and chemicals
ii) ionizing radiation
iii) high temperature
iv) infectious microorganisms
v) mothers metabolisc conditions
When is the embryo most susceptible to teratogens?
3-8 weeks when most organ structures form
What is one of the most devastating teratogens?
What does it cause?
Alcohol
Causes fetal alcohol syndrome
In mice what causes FAS?
Failure of anterior neural tube to close
What causes the brain effects of FAS?
As a result of increased cell death and weakened cell adhesion due to inhibition of the L1 binding.
What is the classical teratogen?
Thalidomide - caused limb defets
What are the types of congenital limb defects?
1. Reduction defects
2. Duplication defects - polydacyly
3. Dysplasia - malformation / excessive limb growth
What diseases result from mutations in FGF receptors?
What is this disease type sometimes termed?
1. Alpert syndrome, Pfeiffer syndrome & dwarfism
2. Sometimes termed 'gain of function' mutations resulting in receptor hypersensitivity - where the receptors respond to additonal ligands
What is the gene which causes FGF receptor conditions?
FGFR2
What intrinsic genetic events cause genetic diseases?
1. Point mutations - e.g PAX6
2. Aneuplodies - Trisomy21
3. Chromosomal translocations - SrY gene
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