GCP 511 Human Genetics Conditions for Exam 1

Achondroplasia

Autosomal dominant, causes disproportionate short stature due to a mutation in the FGFR3 gene.

Alpha thalassemia

Autosomal recessive blood disorder characterized by reduced production of hemoglobin due to gene deletions affecting the α-globin chains.

Charcot Marie Tooth

A heterogenous hereditary (dominant, recessive, x-linked) disorder affecting the peripheral nerves, leading to muscle weakness and atrophy due to mutations in genes involved in the structure and function of peripheral nerves.

Cystic Fibrosis

Autosomal recessive, a progressive, inherited genetic disorder that causes the body to produce abnormally thick mucus, damaging the lungs, digestive system, and other organs due to mutation in CFTR gene.

Duchene Muscular Dystrophy

X-linked recessive, genetic disorder that causes muscle degeneration and weakness due to the lack of the dystrophin protein. Boys affected more due to no X chromosome replacement.

Fragile X syndrome

X-linked disorder, causes intellectual disability, learning challenges, and specific behavioral traits due to a mutation in the FMR1 gene. There is full mutation (>200 repeats) which is severe, and premutation (55-200 repeats) which is less severe but can show ataxia and ovarian insufficiency.

HBOC syndrome

Autosomal dominant, significantly raises the risk of developing breast, ovarian, and other cancers at a younger age than usual due to mutations in BRCA genes.

Hemophilia A

X-linked recessive, mutation in F8 gene causes deficiency in clotting factor 8 that leads to prolonged bleeding and impaired blood coagulation.

Huntington disease

Autosomal dominant, a progressive brain disorder that causes nerve cells to break down and die, leading to uncoordinated movements, mental decline, and mood changes.

Marfan syndrome

Autosomal dominant, a genetic connective tissue disorder that affects the body's supporting structures, most commonly impacting the heart, blood vessels, bones, joints, and eyes due to mutation in FBN1 gene.

Neurofibromatosis Type 1 (NF1)

Autosomal dominant, causes non-cancerous tumors to grow along nerves and leads to changes in skin pigmentation.

Rett syndrome

X-linked dominant, mutation in MECP2 gene causes a rare genetic neurodevelopmental disorder that causes a progressive loss of motor skills, communication, and purposeful hand use after a period of normal early development. Majorly seen in females, because it is fatal in males.

Sickle cell disease

Autosomal recessive, an inherited group of blood disorders where a gene mutation forces red blood cells to change from round and flexible disks into rigid, crescent or "sickle" shapes that block blood flow.

Tay Sachs

Autosomal recessive, mutation in Hex A gene causes disorder that destroys nerve cells in the brain and spinal cord due to a buildup of fatty substances called GM2 ganglioside.

Xeroderma Pigmentosum

Autosomal recessive, rare inherited condition that causes extreme sensitivity to ultraviolet (UV) radiation from sunlight, leading to premature skin aging, severe eye damage, and a drastically increased risk of skin cancer.