Auditory/Visual Flashcards
(18 cards)
2 Qualifications for “Syndrome”
> 1 finding
Findings need to be caused by shared factor
Pendred Syndrome (2)
Most common syndrome of deafness
With Goiter
Usher Syndrome (2)
2nd most common syndrome of deafness
Also presents w/ RP
Most Common Deafness Inheritance
Autosomal Recessive
Waardenburg Syndrome (2)
Deafness from error in neural crest cell migration
Discolored eyes
Alport Syndrome (3)
Deafness, renal disease, and ocular problems
Complete Labyrinthine Aplasia (3 symptoms, cause)
Microtia, microdontia, and profound deafness from complete lack of inner ear structures
Missense change in FGF3 gene
Aminoglycoside
Antibiotic that can induce deafness from mt rRNA mut making it more similar to bacterial rRNA
GJB2
Most common nonsyndromic deafness gene in caucasians
Dehydrodolichol Diphosphate Synthase (DHDDS)
Enzyme in N-linked glycosylation where mutant causes RP
ID Definition
Significant limitations in 2+ areas of adaptive behavior
1 Cause of ID
Monogenic Disorder
3 Tiers of Repeats for Fragile X
200: Full mutation
4 Clinical Symptoms of Fragile X Carriers
Primary ovarian insufficiency (POI)
Fragile X-Associated Tremor Ataxia syndrome (FXTAS)
Anxiety
ADHD
AGG Repeats
Interrupt CGG repeats, can reduce risk of expansion for Fragile X
Connective Tissue Dysplasia
Common feature of fragile X, hyper-extensible joints
Diagnostic Tests for Fragile X
PCR then Southern Blot, NOT microarray
Fragile X Pathophysiology
(When methylated, lose) FMRP is an mRNA binding prot, so lose regulation of production of multiple prots
