Genetics of Inherited Disease Flashcards
What is trisomy 18 called?
Edward’s syndrome
Describe Edward’s syndrome:
Prominent occiput, dysplastic or malformed ears, clenched hand with overlapping fingers, shield chest or short
What is trisomy 13 called?
Patau syndrome
Describe patau syndrome
Cleft lip, no eyebrows, undescended or abnormal testes
What is XXY called?
Klinefelters syndrome
Describe Klinefelters
Feminine physique on a dude. Small testes
What is the gene affected in Marfan’s?
Fibrillin 1
What is the gene affected in familial hypercholesterolemia?
Nearly all include a mutation in the LDL receptor gene
What is a deadly consequence of Ehlers Danlos?
Vascular abnormalities
Which chromosome is the cystic fibrosis gene on ?
7
Describe the pathogenesis of PKU
Defect in PAH, which usually converts phenylalanine –> tyrosine
Tyrosine builds up –>pigments, neurotransmitters –> mental retardation and seizures
What is the smell associated with PKU?
Excretions have a “musty” smell
What is the inheritance pattern of Duchenne’s Muscular dystrophy?
X-linked recessive - only shows up in boys
What is the gene affected in Duchenne’s Muscular dystrophy?
Dystrophin gene
What is the gene affected in incogtinentia pigmati
IKBKG
What is the clinical presentation of incogtinentia pigmati?
blistering rash at birth which heals, followed by development of wart-like skin growth
Kids develop grey/brown swirly patches of skin in swirled patterns
Adults have hypopigmentation
What is the inheritance pattern of Rett syndrome?
X-linked Dominant
What is the gene affected in Rett syndrome?
MECP2
What are the clinical signs of Rett syndrome?
progressive motor, cognitive, emotional, and autonomic impairment
Often misdiagnosed as cerebral palsy, autism etc..
What is the inheritance of fragile X syndrome?
X-linked dominant
What is the genetic abnormality in fragile X syndrome?
FMR-gene has CAG repeats
Name two intronic mutations that promote disease
HOTAIR mutation –> silences HOX target gene in cancer
BASE1-AS- stabilizes BASE-1, increased amyloid formation (alzheimer’s)
Does Prader Willi occur when the gene from mom or dad is deleted/
When the gene is deleted from the Dad, Prader Willi occurs
Describe myotonic dystrophy through the generations
Grandma: bilateral cataracts
Mom: facial weakness, myotonia and cataracts
Baby: congenital myotonic dystrophy
