Genetics Flashcards
What part of DNA failure contributes to genetic mutations?
Protein encoding failure
What % of hearing loss is genetic?
50% is genetic; 30% syndromic and 70% non-syndromic
What syndromes contribute to progressive HL?
Alport Syndrome, NF2, Usher 3
What syndromes contribute to congenital HL?
Usher 1 and 2, Waardenburg, Apert Syndrome, Pendred, Jervell-LangeNeilsen, CHARGE
What is the process of autosomal dominant?
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.
What is the process of autosomal recessive?
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.
What is the process of X-linked?
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.
What is the process of mitochondrial linked?
The mother can only pass on a mitochondrial genetic mutation. May not manifest unless the child is exposed to a certain antibiotic.
Which syndromes are from autosomal recessive?
Jervell Lange-Neilson, Usher, Pendred, and Alport (15%)
Which syndromes/mutations are associated with profound or severe SNHL?
Usher, Pendred, Waardenburg, and DFNB4
Which syndromes have all types of HL?
CHARGE AND BOR
Which syndrome has conductive HL?
Apert Syndrome
Auditory Neuropathy; what is a screening for this?
i.e of vestibular schwanoma, AABR detects the presence of AN
