Week 5: Medical Genetics- Hearing Loss

Question 1

Inheritance of Jervell-Lange-Nielson Syndrome

Answer 1

AR

Question 2

2 major features of Jervell-Lange-Nielson Syndrome

Answer 2

hearing loss, long QT syndrome

Question 3

Inheritance of Pendred Syndrome

Answer 3

AR

Question 4

3 major features of Pendred Syndrome

Answer 4

SNHL, thyroid loiter, ID

Question 5

Inheritance of Usher Syndrome

Answer 5

AR

Question 6

3 major features of Usher Syndrome

Answer 6

SNHL, retinitis pigments, absent vestibular response

Question 7

Inheritance of BOR syndrome

Answer 7

AD

Question 8

3 major features of BOR syndrome

Answer 8

Branchial arch anomaly, ear anomaly with hearing loss, renal anomaly

Question 9

Inheritance of Treacher Collins Syndrome

Answer 9

AD

Question 10

3 major features of Treacher Collins Syndrome

Answer 10

Malar hypoplasia, coloboma, microtia with hearing loss

Question 11

Inheritance of Waardenburg syndrome

Answer 11

AD

Question 12

3 major features of Waardenburg Syndrome

Answer 12

Hearing loss, white forelock, sapphire-blue eyes

Question 13

Inheritance of NF2

Answer 13

AD

Question 14

3 major features of NF2

Answer 14

vestibular schwannomas w/ hearing loss, tinnitus, balance problems

Question 15

Inheritance of Alport Syndrome

Answer 15

AD

Question 16

4 major features of Alport Syndrome

Answer 16

SNHL, ocular abnormalities, nephritis, hematuria/proteinuria

Question 17

Inheritance of non-syndromic hearing loss

Answer 17

AR

Question 18

2 genes implicated in non-syndromic hearing loss

Answer 18

Connexin 26, Connexin 30