Hearing Loss

Question 1

GJB2 and GJB6 mutations characterize what kind of hearing loss?

Answer 1

non-syndromic, sensorineural, pre-lingual, sometimes progressive (dominant form), sometimes non-progressive (recessive form)

Question 2

What gene is associated with a “cookie-bite” audiogram and what does this mean clinically?

Answer 2

TECTA; mild to moderate mid-frequency loss, progressive or stable, pre-lingual or post-lingual, sensorineural

Question 3

What are clinical features associated with hearing loss caused by pathogenic variants in OTOF?

Answer 3

pre-lingual, non-syndromic, auditory neuropathy with severe to profound hearing loss
some cases show temperature sensitivity
ABR shows no auditory brainstem response but normal otoacoustic emissions

Question 4

What are unique clinical symptoms associated with Jervell and Lange-Nielsen syndrome?

Answer 4

prolonged QT interval on ECG, ventricular tachycardia, sudden cardiac death

Question 5

What are clinical symptoms associated with Alport syndrome?

Answer 5

Most forms are X-linked
Kidney manifestations include hematuria and proteinuria that may progress to chronic kidney disease and end-stage renal disease

Question 6

How are mitochondrial causes of hearing loss modified by the environment?

Answer 6

Exposure to aminoglycosides and a pathogenic variant in MT-RNR1 can result in profound deafness or mild to moderate progressive

Question 7

Conductive hearing loss is due to:

Answer 7

abnormalities of the external ear and/or ossicles of the middle ear

Question 8

Sensorineural hearing loss is due to:

Answer 8

malfunction of inner ear structures