AUTOSOMAL DOMINANT DISEASES

Question 1

A genetic disorder that affects bone growth that results in dwarfism.

Answer 1

Achondroplasia

Question 2

Achondroplasia gene

Answer 2

Mutations in the FGFR3 gene

Question 3

Achondroplasia molecular lesion

Answer 3

A “gain of function” mutation

Question 4

Achondroplasia protein

Answer 4

FGFR3 Protein (Fibroblast Growth Factor Receptor 3)

Question 5

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)

Answer 5

Achondroplasia

Question 6

impairs the growth of bone in the limbs and causes abnormal growth in the spine and skull.

Answer 6

Achondroplasia

Question 7

Achondroplasia diagnosis

Answer 7

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

Question 8

is a genetic condition that causes your fingers and toes to appear shorter in proportion to other parts of your body.

Answer 8

Brachydactyly

Question 9

Brachydactyly gene

caused by a mutation in the______, produces shortening of the terminal phalanges of the thumb and big toe

Answer 9

homeobox HOXD13 gene

Question 10

Brachydactyly molecular lesion

Answer 10

A “loss of function” mutation

Question 11

Brachydactyly diagnosis

To determine if brachydactyly is part of a syndrome

Answer 11

a full skeletal X-ray may be done.

Genetic testing may also be necessary to determine if the syndrome is present.

Question 12

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.

Answer 12

Familial Hypercholesterolemia

Question 13

Familial Hypercholesterolemia molecular lesion and gene

Answer 13

Loss of function in LDLR gene

Question 14

Familial Hypercholesterolemia protein

Answer 14

LDLR

Question 15

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

Answer 15

Familial Hypercholesterolemia

Question 16

A diagnosis of hypercholesterolemia is based on routine blood analysis to check levels of “bad” cholesterol, which includes triglycerides and low-density lipoproteins (LDLs).

The blood is also checked for the presence of high-density lipoprotein (HDLs) or “good” cholesterol

Answer 16

Familial hyper cholesterolemia

Question 17

is a genetic condition that affects connective tissue, which provides support for the body and organs.

Answer 17

Marfan syndrome

Question 18

Marfan syndrome gene

Answer 18

fibrillin-1 (FBN1) located
on chromosome 15q.

Question 19

Marfan syndrome mol lesion

Answer 19

Missense mutation

Question 20

Marfan syndrome protein

Answer 20

Fibrillin-1 protein

Question 21

Skeletal abnormalities

Ocular changes take many forms.

Cardiovascular lesions are the most life- threatening features of this disorder.

90% of people with ______ develop changes in their heart and blood vessels.

Answer 21

Marfan syndrome

Question 22

refers to a group of rare disorders that leads to disturbances of porphyrin metabolism

Answer 22

Porphyria

Question 23

AIP:
-Body pains which may lead to long-term pain
- Faster heart rate and higher blood pressure
-Tingling and loss of sensation
-Cramping
-Vomiting and constipation
-Kidney damage and Liver cancer

PCT:
-Oversensitivity to sunlight
-Blisters
-Itching and Swelling
-More hair growth
-Darkening and Thickening

Answer 23

Porphyria