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Pediatric Audiology > Genetics > Flashcards

Flashcards in Genetics Deck (13)
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1
Q

What part of DNA failure contributes to genetic mutations?

A

Protein encoding failure

2
Q

What % of hearing loss is genetic?

A

50% is genetic; 30% syndromic and 70% non-syndromic

3
Q

What syndromes contribute to progressive HL?

A

Alport Syndrome, NF2, Usher 3

4
Q

What syndromes contribute to congenital HL?

A

Usher 1 and 2, Waardenburg, Apert Syndrome, Pendred, Jervell-LangeNeilsen, CHARGE

5
Q

What is the process of autosomal dominant?

A

One of the parents passes on a dominant mutation gene that affects the child. There is a 50% chance the children will acquire the mutation.

6
Q

What is the process of autosomal recessive?

A

Both parents must contribute their mutated recessive gene to be expressed in the child. It has a 25% rate of being passed down. It is the most common.

7
Q

What is the process of X-linked?

A

X linked mutations generally occur in males. The mother or father can pass down the X gene mutation. If the father passes on the dominant X gene then the girls will be affected, if the mother passes the dominant X than the children have 50% chance of being affected. In girls, the other X gene may be able to compensate for an X mutated gene. 80% of Alport syndrome is inherited like this.

8
Q

What is the process of mitochondrial linked?

A

The mother can only pass on a mitochondrial genetic mutation. May not manifest unless the child is exposed to a certain antibiotic.

9
Q

Which syndromes are from autosomal recessive?

A

Jervell Lange-Neilson, Usher, Pendred, and Alport (15%)

10
Q

Which syndromes/mutations are associated with profound or severe SNHL?

A

Usher, Pendred, Waardenburg, and DFNB4

11
Q

Which syndromes have all types of HL?

A

CHARGE AND BOR

12
Q

Which syndrome has conductive HL?

A

Apert Syndrome

13
Q

Auditory Neuropathy; what is a screening for this?

A

i.e of vestibular schwanoma, AABR detects the presence of AN