AUTOSOMAL DOMINANT DISEASES Flashcards
A genetic disorder that affects bone growth that results in dwarfism.
Achondroplasia
Achondroplasia gene
Mutations in the FGFR3 gene
Achondroplasia molecular lesion
A “gain of function” mutation
Achondroplasia protein
FGFR3 Protein (Fibroblast Growth Factor Receptor 3)
Short stature
Shortened arms, legs,
fingers, thighs
Large head compared to the
body
Bowed legs
(Short stature, rhizomelic shortening of limbs, frontal bossing, midface
deficiency)
Achondroplasia
impairs the growth of bone in the limbs and causes abnormal growth in the spine and skull.
Achondroplasia
Achondroplasia diagnosis
Prenatal ultrasound can help detect achondroplasia during pregnancy
They will look for hydrocephalus (fluid inside the brain)
Diagnosis can be conducted before or after the baby is born
is a genetic condition that causes your fingers and toes to appear shorter in proportion to other parts of your body.
Brachydactyly
Brachydactyly gene
caused by a mutation in the______, produces shortening of the terminal phalanges of the thumb and big toe
homeobox HOXD13 gene
Brachydactyly molecular lesion
A “loss of function” mutation
Brachydactyly diagnosis
To determine if brachydactyly is part of a syndrome
a full skeletal X-ray may be done.
Genetic testing may also be necessary to determine if the syndrome is present.
caused by a gene alteration that’s passed down from one or both parents.
People who have this condition are born with it.
This change prevents the body from ridding itself of the type of cholesterol that can build up in the arteries and cause heart disease.
Familial Hypercholesterolemia
Familial Hypercholesterolemia molecular lesion and gene
Loss of function in LDLR gene
Familial Hypercholesterolemia protein
LDLR
lumps around your knees, knuckles, or elbows.
Swollen or painful Achilles tendon.
Yellowish areas around your eyes.
A whitish gray color in the shape of a half-moon on the outside of your cornea
Familial Hypercholesterolemia
