Brainscape's Knowledge GenomeTM

Browse over 1 million classes created by top students, professors, publishers, and experts.


See full index

Otolaryngology-rote memorization topics > Genetic mutations > Flashcards

Genetic mutations Flashcards

1
Q

Waardenburg

A

Type 1: White forelock, SNHL, heterochromia iridites, dystopia canthorum. AD. PAX3
Type 2: No dystopia canthorum. AD. MITF
Type 3: WS plus contracture or hypoplasia of the limbs. AD. PAX3
Type 4: WS plus Hirschsprung disease. AR

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
2
Q

Menin

A

MEN1 gene, MEN 1 syndrome

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
3
Q

NF2

A

AD, merlin, chromosome 22

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
4
Q

CHD7

A

CHARGE

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
5
Q

COL2A

A

Stickler, type I. AD. NL to mild SNHL, ocular findings, joint hypermobility, midline cleft

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
6
Q

COL11A1

A

Stickler, type II. AD. No ocular findings. SNHL between types 1 and 3

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
7
Q

COL11A2

A

Stickler, type III: AD. Moderate to severe SNHL

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
8
Q

COL9A1

A

Stickler, type IV: AR

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
9
Q

TCOF-1

A

Treacher Collins. AD. Protein: Treacle

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
10
Q

Neurofibromin

A

NF1

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
11
Q

Fibroblast growth factor receptor 2 (FGFR2)

A

Apert

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
12
Q

Alport

A

Type IV collagen

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
13
Q

GLI3

A

Pallister Hall

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
14
Q

MEN 2A

A

RET

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
15
Q

MEN 2B

A

RET

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
16
Q

Familial medullary thyroid carcinoma (FMTC)

A

RET, NTRK1

17
Q

PTC

A

RET (20%), BRAF (30%, V600E=aggressive PTC), NTRK1 (5-10%)

18
Q

GJB2

A

Connexin 26

19
Q

Pendred

A

AR, pendrin mutation, SLC26A4

20
Q

A1555G mutation

A

Susceptibility to aminoglycoside ototoxicity

Mitochondrial inheritance

21
Q

POU3F4

A

Perilymphatic gusher X linked mixed hearing loss

22
Q

ACYP2

A

Susceptibility to platinum induced toxicity

23
Q

Branchio-oto-renal syndrome

A

AD, EYA1

24
Q

JLN

A

AR. KVLQT1, KCNE1

25
Q

Usher

A

AR. MYO7A, usherin

1: Severe to profound SNHL, vestibular dysfunction and RP in childhood
2: Moderate to severe SNHL, no vestibular dysfunction, and RP in 3rd-4th decades
3: Progressive SNHL, vestibular dysfunction and variable onset of RP

26
Q

Refsum disease

A

AR, PHYH and PEX7. Severe, progressive SNHL, RP, peripheral neuropathy, ataxia, and elevated CSF protein without increase in number of cells

Otolaryngology-rote memorization topics (11 decks)

Brainscape helps you reach your goals faster, through stronger study habits.
© 2025 Bold Learning Solutions. Terms and Conditions