Autosomal Disorders

Question 1

Mutation in the FGFR3 gene (Fibroblast growth factor receptor 3)

Answer 1

Achondroplasia

Question 2

Short limbs relative to trunk, prominent forehead, low nasal root, redundant skin
folds on arms and legs

Answer 2

Achondroplasia

Question 3

Mutations in APOB (Apoliporotein B), LDLR (low-density lipoprotein receptor), and PCSK9 (proprotein convertase subtilisin/kexin type 9)

Answer 3

Hypercholesterolemia

Question 4

Impaired uptake of LDL, elevated levels of LDL cholesterol, cardiovascular disease
and stroke. Symptoms more severe in homozygous individuals

Answer 4

Hypercholesterolemia

Question 5

Mutation in the Sonic Hedgehog gene

Answer 5

Holoprosencephaly

Question 6

Malformation of the brain (no or reduced evidence of an interhemispheric fissure),
dysmorphic facial features, mental retardation

Answer 6

Holoprosencephaly

Question 6

Disorder is characterized by progressive motor, cognitive and psychiatric
abnormalities.

Answer 6

Huntington Disease

Question 7

nonrepetitive involuntary jerks – is observed in 90% of patients

Answer 7

Chorea

Question 8

Mutation in the Huntingtin (HD)

Answer 8

Huntington Disease

Question 9

Mutation in the FBN1 gene (Fibrillin 1),

Answer 9

Marfan Syndrome

Question 10

Abnormalities of the skeleton (disproportionate tall stature, scoliosis), heart (mitral
valve prolapse, aortic dilatation, dissection of the ascending aorta), pulmonary system, skin
(excessive elasticity), and joints (hypermobility). A frequent cause of death is congestive heart
failure.

Answer 10

Marfan Syndrome

Question 11

Mutation in the DPMK gene

Answer 11

Myotonic Dystrophy

Question 12

• Mutation in the NF1 gene (neurofibromin)

Answer 12

Neurofibromatosis

Question 13

The disorder is characterized by numerous benign tumors of the
peripheral nervous system, but a minority of patients also show increased incidence of malignancy (neurofibrosarcoma, astrocytoma, Schwann cell cancers and childhood CML – chronic
myelogenous leukemia)

Answer 13

Neurofibromatosis

Question 14

Null mutations produce a milder form of the disease. Missense mutations that act
in a dominant negative manner are often perinatal lethal. The disorders are associated with
deformed, undermineralized bones that are subject to frequent fracture

Answer 14

Osteogenesis Imperfecta

Question 15

Mutations in COL1A1 (collagen type 1 alpha 1) and COL1A2 (collagen type 1 alpha 2),

Answer 15

Osteogenesis Imperfecta

Question 16

Mutations in the PKD1 and PKD2 genes

Answer 16

Polycystic Kidney Disease

Question 17

Dangerously high blood pressure (hypertension), pain in the back or sides, blood in the urine (hematuria), recurrent urinary tract infections, kidney stones, and heart valve abnormalities.

Answer 17

Polycystic Kidney Disease

Question 18

Mutation in the CFTR gene

Answer 18

Cystic Fibrosis

Question 19

Pancreatic insufficiency due to fibrotic lesions, obstruction of lungs due to thick
mucus, lung infections

Answer 19

Cystic Fibrosis

Question 20

A mutation in the GBA gene (glucocerebrosidase)

Answer 20

Gaucher’s disease

Question 21

Lysosomal storage disease characterized by splenomegaly, hepatomegaly, and
bone marrow infiltration. Neurological symptoms are not common

Answer 21

Gaucher’s disease

Question 22

Mutation in the HFE gene (homeostatic iron regulator)

Answer 22

Hemochromatosis

Question 23

Behavioral difficulties, eczema, fairer skin, unpleasant odor in skin, breath, and urine. Mental retardation, if untreated, possibly due to inhibition of myelination and
disruption of neurotransmitter synthesis.

Answer 23

Phenylketonuria

Question 24

Hypotonia, spasticity, seizures, blindness, death by age 2. An early indication is a
cherry red spot on the retina.

Answer 24

Tay-Sach’s Disease

Question 25

Mutation in the HEXA gene

Answer 25

Tay-Sach’s Disease

Question 26

Acute photosensitivity, premature skin aging, premalignant actinic keratoses, and
benign and malignant neoplasms of the skin, including basal cell carcinoma, squamous cell
carcinoma, or both

Answer 26

Xeroderma Pigmentosum

Question 27

characterized by intracytoplasmic vacuoles containing autophagic material and glycogen in
cardiac and skeletal muscle cells in patients with cardiomyopathy and skeletal myopathy, with
or without conduction defect.

Answer 27

Danon disease

Question 28

is associated with seizures and mental retardation. The condition is presumed to be lethal to
boys in utero because nearly 100% of cases are female. Also affects the skin

Answer 28

Incotinentia Pigmenti

Question 29

caused by mutations in the LAMP2 gene.

Answer 29

Danon Disease

Question 30

caused by mutations in the X-linked MECP2 gene.

Answer 30

Rett Syndrome

Question 31

Loss of functional use of the hands, distinctive hand movements, slowed brain and head growth, seizures, intellectual disability.

Answer 31

Rett Syndrome

Question 32

Disorder shows anticipation. Muscle weakness, cardiac arrhythmias, cataracts and
testicular atrophy in males. Weak muscle tone (hypotonia), upward and inward turning of the foot (clubfoot), breathing problems, delayed development, and intellectual disability.

Answer 32

Myotonic Dystrophy

Question 33

Enhanced absorption of dietary iron with accumulation of abnormal, pigmented,
iron-protein aggregates (hemosiderin) in visceral organs.

Answer 33

Hemochromatosis