FGFR3 Flashcards
What does FGFR3 stand for?
Fibroblast Growth Factor Receptor 3
How many proteins in the FGFR3 family?
4, with similar structures and functions
Fibroblast Growth Receptor proteins functions? (5)
Role in many important multicellular processes e.g.
- Cell proliferation
- Cell determination
- Angiogenesis (formation of blood vessels)
- Wound healing
- Embryo development
Fibroblast Growth Factor Receptor 3 protein location?
Why? (2)
- Spans cell membrane, with
- One end of protein in cell and other projects from outer surface to
- Allow it to interact with SPECIFIC GROWTH FACTORS outside the cell and to
- Receive signals that control Growth and Development
Cytogenetic Location of FGFR3?
4p16.3 = short arm of chromosome 4 (p) at position 16.3
Animal study year?
Mouse in 2000
Which type of thanatophoric dysplasia did the mouse embryo have?
Type II
When were embryonic abnormalities detected in mouse study? What were they?
Embryonic day 14, during endochondral ossification
Long-bone abnormalities
What is Thanatophoric Dysplasia?
Severe skeletal dysplasia
What does dysplasia mean?
Abnormal growth or development of a tissue or organ
How common is Thanatophoric Dysplasia?
1 in 60,000 births
Type I phenotype? (7)
- curved thigh bones
- PLATYSPONDYLY (Flattened spine bones)
- RHIZOMELIA (disproportionate length of proximate limb)
- Narrow thorax
- Large head
- Prominent forehead
- Short fingers
Type II Phenotype? (3)
- Short, straight long bones
- Cloverleaf skull
- H-shaped vertebrae
Type of disorder?
AUTOSOMAL DOMINANT disorder - one mutated copy of FGFR3 gene needed for disorder to be present
Always caused by new mutations of the gene as no family history and sufferers do not live long enough to reproduce
Life expectancy of Thanatophoric Dysplasia sufferer?
Death in utero or shortly after birth. Rare cases of survival into childhood with significant medical help
