1. CriDuChat; Gene/Chrom; Mutation; Inheritance; Symptoms; Prognosis
    5p15 causes loss of catenin which prevents cell adhesion. Deletion. Dominant (haploinsufficiency). Cat-like cry, mental retardation, small head. Usually do not survive to adulthood.
  2. Wolf-Hirschhorn; Gene/Chrom; Mutation; Symptoms; Other
    4p16( 18p, 18q, 13q). Deletion(75% de novo). Craniofacial features with "greek warrior helmet", microcephaly, high forehead, prominent glabella, seizures, skeletal anomalies, hearing loss, congenital heart defect. Can have ring of chromosome 4
  3. DiGeorge Syndrome; Gene/Chrom; Mutation; Symptoms; Method to detect
    22q11; Microdeletion; Cleft palate, heart murmur, small mouth, narrow eyes, upward slant of eyes, learning difficulty, immune deficiency. Use metaphase FISH to detect
  4. Williams-Beuren Syndrome; Gene/Chrom; Mutation; Symptoms; Other
    7q11.23 (loss of elastin component of microfibrils). Microdeletion. Heart problem, learning difficulty, small size. Drawings can recognize details but can't put together correctly
  5. Sickle Cell Anemia; Gene/Chrom; Mutation; Symptoms; Other; Method to detect
    11p15.5 (HBB gene). Single missense mutation. Unequal finger length. Can be a founder mutation, hetero provides protection against malaria. Dot blot hybridization to detect
  6. Hemophilia; Gene/Chrom; Mutation; Inheritance; Symptoms; Method to detect
    Xq28 (F8 gene Factor VIII). Inversion. X-linked. Bleeding around arm, retina, joints causing arthritis. Use southern blot analysis
  7. Duchenne Muscular Dystrophy; Gene/Chrom; Mutation; Other; Method to detect
    Many involving dystrophin. Deletion. Largest gene found in nature 2.4 Mb. PCR to detect
  8. Huntington Disease; Gene/Chrom; Mutation; Inheritance; Method to detect
    HTT gene on 4p16 exon1; CAG repeat (over 37 is pathalogical); AD; PCR
  9. Fragile X Syndrome; Gene/Chrom; Mutation; Inheritance; Symptoms; Other
    FMR1 gene (RNA binding protein which is involved in translation or mRNA trafificking). CCG in 5'UTR (A type) or CGG in promoter (E type). Complete LOF with male having mental retardation and affected females with less severe phenotype. First disease of nucleotide repeats with Fragile X not staining well
  10. Mytonic Dystrophy
    AD. Hypotonia (low muscle tone), skeletal, smooth, eye, heart, CNS affected, blue dot cataract. Anticipation pattern of offspring having worse affects. 19q13 with CTG repeats in 3' UTR (DM1) or in Intron 1 (DM2)
  11. Beta Thalassemia
    Absence of beta globin in adult (child born with fetal hemoglobin). Failure to thrive, pale, splenomegaly, hypochromatic blood film, red cells with multiple nuclei, hairy skull, liver biopsy with iron over load.
  12. Long QT syndrome
    Romano-Ward type dominant, Jervell and Lange Nielson type recessive. syncope and deaf child. Normal QT segment is <390 msec so prolonged >490 msec. Most die of heart attack
  13. X-linked Androgen Insensitivity
    X-linked CAG repeat. (Xq11-q12). Testes develop but cannot react to androgen so proceed as female with external gentialia, breasts, infertile, no pubic hair. Treatment removes testes
  14. Reifenstein Syndrome
    partial loss of SRD5A2 causes male pseuodo hermaphroditism (normaly encodes 5Alpha reductase). Micropenis and gynecomastia. Not as serious as androgen insensitivity
  15. Spinal and bulbar muscular dystrophy
    X-linked CAG repeat (38-62). aDULTS ONSET muscular atrophy, genecomastia or other mild androgen deficiency
  16. SCID
    failure to thrive, herpes simplex, immunodeficiency. X-linked
  17. Angelman Syndrome
    Microdeletion in maternal chrom 15 from q11-q13). UBE3 gene gone is no ubiquitin protein ligase so harmful stuff accumilates. Happy, smiling laughing, unstable gait, mental retard, mircocephay, seizures
  18. Prader-Willi Syndrome
    Microdeletion in paternal 15 q11-q13. Hypotonia, hypogonad, short status, non insulin dependant diabetes, obese, cognitive impairment, infertile. Test with FISH test
  19. PKU
    AR (LOF). No phenylaalanine hydroxylase. Phe transport and disposal affected, blood brain barrier compromised.
  20. Skeletal Dysplasias
    AR. Mutation in sulfate transporter. BOne and cartilage formation causes 4 disease. 1. Multiple epiphyseal dysplasia 2. Diastrophic dysplasia 3. Atelosteogenesis type II 4. Achondrogenesis type Ib
  21. CAH
    AR. 21 hydroxylase deficiency of P 450 family. Female pseudohermaphroditism and affected males only have excess growth. Treat with glucocorticoid in children to raise cortisol and aldosterone and prednisone and dexamethasone in adults. also Fludrocortisone for missing aldosterone.
  22. Nonclassical CAH 21 i hydroxylase deficiency
    AR. Partial enzyme deficiency of above. Premature pubic hair, irregular menses, milder not threatening CAH forms later in life. Treat with low dose glucocorticoids
  23. Acute Lymphocytic Leukemia
    Pale bruising, tachycardia, low Hb, large number of blastocytes cells. Treat with chemotherapy
Card Set
Gene Tiff Notes