IP + Eitiology Flashcards
(19 cards)
Inheritance pattern of Achondroplasia
Autosomal Dominant
Complete Penetrance
Describe achondroplasia
Dwarf, large head + prominent forehead
Reduced fertility
Lordosis
Achondroplasia results from a mutation of…
FGFR3
Ligand independent gain of function mutation
Osteogenesis Imperfecta type II Inheritance pattern
autosomal dom
Explain the 4 types of OI
1 – Mild, fractures, blue sclera, deaf (normal collagen, just not enough)
2 – Severe, perinatal lethal
3 – Fractures at birth, progressive deformity
4 – Fracture Tendency, nromal scleara
Pleiotrophy =
Multiple phenotypic effects of a single gene/gene pair
ex. marfan
Inheritance pattern of Marfan Syndrome
Autosomal Dominant
Pleiotropy and Variable Expressivity
Marfan Syndrome is a mutation of…
Fibrillin-1 (FBN1) gene
What is a dominant negative mutation
Disease causing allele disrupts the function of wild type protein
Neurofibromatosis 1 symptoms
Neurofibromas, cafe au lait, lisch nodules (iris nodules)
Important symptoms of Alkaptonuria
Black Urine
Black deposits in random places
Degenerative joint changes
Alkaptonuria is a deficiency of…
homogenistic acid oxidase
Duchenne Muscular Dystrophy (DMD) mode of inheritance
X-linked recessive
Duchenne Muscular Dystrophy (DMD) important symptoms
Inability to run properly, progressive muscle weakness, wasting
Inability to rise without pressing thighs (Gower)
Psedohypertrophy of calf muscles
What is Becker MD?
A less severe mutation allelic with DMD
Becket is non-frameshift, duchenne is frameshift
Important details on X-linked dilated cardiomyopathy
Mutation of dystrophin promoter that eliminates expression in the heart
Where does X inactivation happen
X inactivation center (XIC) which is the site of XIST (X inactive specific transcript)
Rett syndrome is a mutation of…
Its inheritance is…
MeCP2
X linked dominany, heterogenous + variable expression
Symptoms of Rett Syndrome
Post natal deceleration of head growth Loss of achieved purposeful hand skils Psychomotor regression Stereotypic hand movements Unexplained sudden death
