Auditory/Visual Flashcards Preview

Biochemistry > Auditory/Visual > Flashcards

Flashcards in Auditory/Visual Deck (18)
1

2 Qualifications for "Syndrome"

>1 finding
Findings need to be caused by shared factor

2

Pendred Syndrome (2)

Most common syndrome of deafness
With Goiter

3

Usher Syndrome (2)

2nd most common syndrome of deafness
Also presents w/ RP

4

Most Common Deafness Inheritance

Autosomal Recessive

5

Waardenburg Syndrome (2)

Deafness from error in neural crest cell migration
Discolored eyes

6

Alport Syndrome (3)

Deafness, renal disease, and ocular problems

7

Complete Labyrinthine Aplasia (3 symptoms, cause)

Microtia, microdontia, and profound deafness from complete lack of inner ear structures
Missense change in FGF3 gene

8

Aminoglycoside

Antibiotic that can induce deafness from mt rRNA mut making it more similar to bacterial rRNA

9

GJB2

Most common nonsyndromic deafness gene in caucasians

10

Dehydrodolichol Diphosphate Synthase (DHDDS)

Enzyme in N-linked glycosylation where mutant causes RP

11

ID Definition

Significant limitations in 2+ areas of adaptive behavior

12

#1 Cause of ID

Monogenic Disorder

13

3 Tiers of Repeats for Fragile X

200: Full mutation

14

4 Clinical Symptoms of Fragile X Carriers

Primary ovarian insufficiency (POI)
Fragile X-Associated Tremor Ataxia syndrome (FXTAS)
Anxiety
ADHD

15

AGG Repeats

Interrupt CGG repeats, can reduce risk of expansion for Fragile X

16

Connective Tissue Dysplasia

Common feature of fragile X, hyper-extensible joints

17

Diagnostic Tests for Fragile X

PCR then Southern Blot, NOT microarray

18

Fragile X Pathophysiology

(When methylated, lose) FMRP is an mRNA binding prot, so lose regulation of production of multiple prots