Mcfm Unit 1: Diseases & Modes Of Inheritance

Front 1

Beta-Thalassemia

Back 1

Autosomal Recessive

Front 2

Alpha-Thalassemia

Back 2

Autosomal Recessive

Front 3

Prader Willi Syndrome

Back 3

Imprinting 15q11-13. Maternally imprinted. Disease manifests by inheriting deletion mutation from dad.

Front 4

Angelman Syndrome

Back 4

Imprinting 15q11-13. Paternally Imprinted. Disease manifests by inheriting deletion mutation from mom.

Front 5

Beckwith-Wiedemann Syndrome

Back 5

11q15.5. Paternal Uniparental Disomy... has two copies of dad's IGF-2 gene, and since no mom chromosome, has no CDKN1C (tumor suppressor).

Front 6

Down Syndrome

Back 6

Trisomy 21.

Front 7

Edwards Syndrome

Back 7

Trisomy 18

• Ventricular septal defect, atrial septal defect, kidney problems, GI connections wrong/missing, clenched hands, rocker bottom feet

Lethal shortly after birth.

Front 8

Patau Syndrome

Back 8

Trisomy 13

• cleft lip/palate, clenched hands, decreased muscle tone, polydactyly, hernias, low-set ears, mental retardation, heart disease, undescended testicles, etc.

80% mortality in first month of life.

Front 9

Turner Syndrome

Back 9

45, X

• Some heart defects, short stature, infertile, no puberty, normal intelligence with reduced IQ

Front 10

Klinefelter Syndrome

Back 10

47, XXY

Males. Tall, infertile, low to no sperm.

Front 11

47XXY or 47XXX

Back 11

Pretty normal females. May have some learning disabilities.

Front 12

DiGeorge Syndrome

Back 12

22q11 Syndrome.

• pneumonic device for symptoms: CATCH-22 – Cardiac abnormalities, abnormal facies, thymic aplasia, cleft palate, hypocalcemia/hypoparathyroidism

Front 13

Williams Syndrome

Back 13

• Partial deletion of chromosome 7.
• Facial abnormalities, personality, low IQ, music
• Cause by deletion in LCR (low copy repeat) duplication

Front 14

Rett Syndrome

Back 14

• X-Linked Dominant
• Xq28 (MECP2 gene – important in DNA methylation)
• Affects 1/10,000 females (lethal in males)
o Can be seen in Klinefelter Males (XXY) because not lethal with 2 X chromosomes
• 99% of cases are sporadic de novo mutations
• Symptoms: neurodevelopmental disorders leading to autism, seizures, motor weakness, poor coordination

Front 15

Marfan Syndrome

Back 15

Autosomal Dominant mutation in FBN1 gene

Front 16

Achondroplasia

Back 16

Autosomal Dominant in FGFR3 gene

Front 17

Familial Hypercholesterolemia

Back 17

Autosomal Dominant

Front 18

Sickle Cell Anemia

Back 18

Autosomal Recessive.

• Missense mutation at codon 6 of beta-globin genes (Glutamic Acid → Valine).

Front 19

Cystic Fibrosis

Back 19

Autosomal Recessive mutation of CFTR gene (CFTR ΔF508) on chromosome 7q31.2 …. Aka is an in-frame deletion (no frame-shift) of phenylalanine AA at codon 508. Accounts for ~70% of all CF cases.

Front 20

Fragile X Syndrome

Back 20

X-Linked Dominant

Front 21

Hemophilia A or B

Back 21

X-Linked Recesive. Allelic Heterogeneity.

Front 22

G6PD Deficiency

Back 22

X-Linked Recessive

Front 23

Duchenne Muscular Dystrophy

Back 23

X-Linked Recessive

Front 24

X-SCID

Back 24

X-Linked Recessive

Front 25

Red-Green Color Blindness

Back 25

X-Linked Recessive

Front 26

Hemochromatosis

Back 26

Autosomal Recessive. Mutation of HFE gene on chromosome 6.

Front 27

BRCA1 & BRCA2

Back 27

Autosomal Dominant

Front 28

Phenylketonuria (PKU)

Back 28

Autosomal Recessive

Front 29

Congenital Long QT Syndrome

Back 29

Autosomal Dominant or Recessive

Front 30

Hypertrophic Cardiomyopathy (HCM)

Back 30

Autosomal Dominant with variable penetrance

Front 31

Tay-Sachs Disease

Back 31

Autosomal Recessive.

• Deficiency in Hexosaminidase A (loss of fxn)
• Leads to toxic build up of GM2 ganglioside, which causes a fatal neurodevelopmental disorder.