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Genetic Diseases

Achondroplasia Model: Autosomal Dominant Gene/Chromosome: FGFR3 mutation (gain of function) 80% de novo Phenotype/Symptoms: Most common form of Dwarfism Homozygous Dominants do not survive
Marfan syndrome Model: Autosomal Dominant Gene/Chromosome: FBN1 mutations Phenotype/Symptoms: fibrous CT issues a increased height, scoliosis, CV complications, arachnodactyly
Neurofibromatosis Model: Autosomal Dominant Gene/Chromosome: large gene - NF1 Chromosome 17 - NF2 Chromosome 22 Phenotype/Symptoms: Benign fleshy tumors, irregular skin lesions, Lisch nodules on iris, NF2 has bilateral hearing loss
Osteogenesis imperfecta Model: Autosomal Dominant Gene/Chromosome: COLA1, COLA2 à type 1 collagen issues Phenotype/Symptoms: skeletal weakness, broken bones
Huntington’s Disease Model: Autosomal Dominant Gene/Chromosome: Huntingtin (expansion of CAG repeats on CH 4) Phenotype/Symptoms: death of brain cells, nervous degeneration, dementia, symptoms start between 30-50, involuntary movements, drunken gait
Myotonic dystrophy (DM1) Model: Autosomal Dominant Gene/chromosome: CTG expansion of DMPK gene (w/ pleiotropy) Phenotype/symptoms: prolonged muscle contraction, muscle weakness and wasting, cardiac condition probs Has second type DM2 (milder) Genetic Test: PCR
Becker Muscular Dystrophy Model: X-Linked Recessive (lethal in males) Gene/Chromosome: Dystrophin - Why? Mutation maintains reading frame Phenotype/Symptoms: DMD but milder, can walk till 16
Duchenne muscular dystrophy Model: X-Linked Recessive (lethal in males) Gene/Chromosome: Dystrophin 1/3 de novo, 2/3 from mother Phenotype/Symptoms: muscle weakness, calf hypertrophy Hits around 2-3 yo
Lesch Nyhan Model: X-Linked Recessive Gene/Chromosome: HGPRT defect/deletion. Issues with purine salvage. Buildup of rudimentary purines -> excess uric acid. Phenotype/Symptoms: “HGPRT” - Hyperuricemia, Gout, Pissed off, mental Retardation, DysTonia.
Rett Syndrome Model: X-Linked Dominant, but 99% de novo Gene/Chromosome: MECP2 on X chromosome Phenotype/Symptoms: grey matter damage, wringing of hands, almost exclusively female
Fragile X Syndrome Model: X-Linked Dominant Gene/Chromosome: FMR1 gene (CGG trinutide expansion repeats) Phenotype/Symptoms: autism like syndrome, long face and protruding ears, retardation, giant testicles Genetic test: methyl specific PCR in m, Southern Blot in fm
Prader-Willi Syndrome Model: de novo Gene/Chromosome: deletion in the paternal chromosome 15q Phenotype/Symptoms: intellectual disability, extreme obesity, small hands, small genitals, hypotonic and failure to eat as infant Displays Maternal Imprinting
Angelman Syndrome Model: de novo Gene/Chromosome: deletion in the maternal chromosome 15q Phenotype/Symptoms: epilepsy, microcephaly, appear happy Displays Paternal Imprinting
Cri du Chat Model: de novo Gene/Chromosome: Deletion 5p deletion Phenotype/Symptoms: Cardiac defects and “kitten-like” crying, retardation, microcephly
Patau Syndrome Model: de novo Gene/Chromosome: Trisomy 13 (or Robertsonian translocation) Phenotype/Symptoms: rocker bottom feet, retardation, cardiac defects, abdominal defects, small or absent eyes, polydactyly, microcephaly, most rare and fatal of trisomy
Edwards Syndrome Model: de novo Gene/Chromosome: Trisomy 18 Phenotype/Symptoms: slow growth and low birth weight, rocker bottom feet, retardation, cardiac defects, abdominal defects, clenching fists, overlapping fingers, cone shaped head, unlikely to live p first year
Down Syndrome Model: de novo Gene/Chromosome: Trisomy 21 (translocation possible) Phenotype/Symptoms: most common, mental retardation, digestive issues, early onset alzheimer's
Klinefelter's Syndrome Model: de novo Gene/Chromosome: usually 47, XXY Phenotype/Symptoms: affects male cognitive development, small testes, micropenis, low T levels, affected individuals taller as adults
Turner’s Syndrome Model: de novo Gene/Chromosome: 45, X Phenotype/Symptoms: affects female, short stature by age 5, eggs cells die prematurely, webbed neck, CV deformity
Cystic Fibrosis Model: Autosomal Recessive Gene/Chromosome: CFTR on Chromosome 7 most common is ΔF508 Phenotype/Symptoms: Cl- channels affected, more mucus buildup, sterile males (no vas defrons), limited fertility in females, malnutrition
Phenylketonuria (PKU) Model: Autosomal Recessive Gene/Chromosome: PAH (phy hydroxylase coding gene) This gene usually converts Phy to Tyr Phenotype/Symptoms: Phenylalanine accumulates à mental retardation Allelic Heterogeneity, compound heterozygotes, locus heterogeneity
Friedrich’s Ataxia Model: Autosomal Recessive Gene/Chromosome: FXN gene (GAA triplet repeat expansion on INTRON ) on CH 9 Phenotype/Symptoms: degenerative nervous disease, no cognitive impairment
Tay-Sachs Model: Autosomal Recessive Gene/Chromosome: HEXA gene (beta-hexosaminidase A, which prevents the enzyme from breaking down GM2 ganglioside), Ashkenazi Jews Phenotype/Symptoms: neurodegeneration, death by age 4 most common, late onset possible
Sickle-Cell Anemia Model: Autosomal Recessive Gene/Chromosome: HbS gene Phenotype/Symptoms: Sickling in RBC
Hemophilia A Model: X-Linked Recessive Gene/Chromosome: Factor VIII Gene deletion Phenotype/Symptoms: Blood can't clot
DiGeorge Syndrome Model: de novo Gene/Chromosome: Microdeletion of 22q (COMT & TBX1) Phenotype/Symptoms: Poor development of several body systems, congenital heart defects, specific facial features.
Wolf-Hirschhorn Syndrome Model: de novo Gene/Chromosome: 4p deletion Phenotype/Symptoms: cleft lip, weird eyes
Chronic Myelogenous Leukemia (CML) Model: de novo Gene/Chromosome: BCR-ABL Fusion protein from translocation between 9q and 22q Phenotype/Symptoms: Blood cell cancer that begins in the bone marrow.
Hereditary non-polyposis colon cancer (HNPCC) Model: Autosomal Dominant Gene/Chromosome: various genes that effect Phenotype/Symptoms: Higher chance for colon cancer.
BRCA-1&2 Breast Cancer Model: Autosmal Dominant Gene/Chromosome: BRCA-1&2 Phenotype/Symptoms: Increased chance for breast and ovarian cancer.
Xeroderma Pigmentosum Model: Autosomal Recessive Gene/Chromosome: Various that effect ability to repair DNA damage due to UV radiation Phenotype/Symptoms: Extreme sensitivity to sum
Created by: carchase
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