What are the clinical manifestations of Lesch-Nyhan Syndrome?
neuro and behavioral abnormalities; overproduction of uric acid; self injury
What is the fitness of Duchenne Muscular Dystrophy?
What is the incidence rate of Lesch-Nyhan Syndrome?
What is not made in Duchenne Muscular Dystrophy?
What is the gene mutation in Lesch-Nyhan Syndrome? Why does uric acid build up?
HPRT1; purines are recycled
What is the incidence rate for Rett Syndrome?
1:10,000 females (males don't survive)
What are the clinical manifestations in Fragile X?
ID, large ears, long face, macroorchidism, autism, hand flapping, aggression
What is the normal CGG repeat range?
What are the clinical manifestation of Rett Syndrome?
loss of coordination and communication skills; abnormal hand flapping; failure to thrive; seizures
Clinical manifestations of Hypophosphatemic Rickets?
bone deformities, short stature, hypophosphatemia
There are no _____ transmissions in X-linked disorders.
male to male
What are the signs and symptoms of Becker Muscular Dystrophy?
same as DMD but later onset (some Dystrophin is made)
What gene is mutated in hemophilia A? What chromosome? What is it caused by?
F8; X chromosome; inversion
Females can be affected by _____ but not by _____.
X-linked dominant; X-linked recessive
How do X-linked recessive disorders occur?
What is the new mutation rate in Rett Syndrome?
What is the repeat in Fragile X?
What is the incidence rate of Fragile X?
1:2500 males; 1:7000 females
X-linked recessive disorders show the phenotype in ______ males and _______ females.
What is the incidence rate of Becker Muscular Dystrophy?
What is the incidence rate of Duchenne Muscular Dystrophy?
What is the mutated gene in Fragile X? Which chromosome?
FMR1 on the X chromosome
What is the transmission bias for Fragile X?
What gene is mutated in Hypophosphatemic Rickets?
What is the incidence rate of hemophilia A?
What is the mutation in Rett Syndrome? Where is it located?
MECP2 gene on X chromosome
What is the result of a PHEX gene mutation??
kidneys cannot reabsorb phosphate into the blood; soft bones result
silencing of one X chromosome
What is the difference between DMD-associated DCM and DMD?
no involvement in the skeletal muscle in DMD-associated DCM
Hypophosphatemic Rickets incidence rate?
What are the signs and symptoms of hemophilia A?
bleeding into joints, muscles, head, bruising, delayed healing
What is the protein of interest in Rett Syndrome? What does it do?
Methyl CpG binding protein; normal function of nerve cells
What are the symptoms of Duchenne Muscular Dystrophy?
progressive muscular degeneration; calf hypertrophy; early death; Gower maneuver
What is FMR1 essential for?
normal cognitive development and female reproductive function
X-linked dominant inheritance is expressed in male _____ and female _____.
What # of repeats is needed for full Fragile X mutation?
more than 200