1
AUD 643 FINAL EXAM COMPLETE QUESTIONS
AND CORRECT DETAILED ANSWERS
(VERIFIED ANSWERS
Quiz: congenital
Ans: present at birth
QUESTION:hereditary
Ans: subgroup of congenital. genes transmitted from parent to child
-known genetic cause
QUESTION:familial
Ans: subgroup of congenital and hereditary.
refers to feature that is seen in multiple members of a family, but not necessarily
linked to one specific gene.
-unknown precise, genetic etiology
-ex. diabetes, cancers, hypertension
QUESTION:genetic
Master01 | 2025/2026 | Latest update
, 2
Ans: subgroup of congenital
-mutation in a gene
-may or may not be hereditary
QUESTION:acquired
Ans: happens with no genetic component
-ex. melanoma
QUESTION:congenital hearing loss
Ans: -1-3 in 1,000 births (only 50% accounted for by genetics)
-70% is non-syndromic (most of the genes are recessive 80%)
QUESTION:Where in genes are hearing losses found?
Ans: majority on autosomes (not sex-linked)
~20% on x-chromosome linked
QUESTION:how many syndromes are associated with hearing loss?
Master01 | 2025/2026 | Latest update
, 3
Ans: over 500 known
-over 120 known genes for hearing loss
QUESTION:four mutations to detect deafness at birth
Ans: -connexin mutations - one of leading causes of deafness (GJB2 and GJB6
genes)
-mtDNA A1555G mutation - increased aminoglycoside induced deafness
-SLC26A4 mutations - Pendred syndrome, EVA
-Citomegalovirus (CMV) - not disorder but tested at birth
QUESTION:GJB2
Ans: Gap Junction Beta 2 protein
-identified 1997
-Connexin 26: allows ion transfer between cells
-most common cause of SNHL
-12-24% of permanent HL in kids
QUESTION:DFNB4
Master01 | 2025/2026 | Latest update
, 4
Ans: -mutation in SLC26A4 gene
-autosomal recessive
-bilateral, severe to profound SNHL
-EVA or mondini malformations
QUESTION:mitochondrial hearing loss
Ans: -very rare
-mutations in MTRNR1 and MTTS1
-maternal inheritance
-highly variable onset
-variable hearing loss
QUESTION:Crouzon Syndrome
Ans: -premature fusion of skull bones
-bulging eyes and strabismus (eyes angled either inward or outward)
-typically show normal intelligence
-autosomal dominant (genetic mutation that is not necessarily hereditary)
QUESTION:Findings and Interventions for Crouzon Syndrome
Master01 | 2025/2026 | Latest update
AUD 643 FINAL EXAM COMPLETE QUESTIONS
AND CORRECT DETAILED ANSWERS
(VERIFIED ANSWERS
Quiz: congenital
Ans: present at birth
QUESTION:hereditary
Ans: subgroup of congenital. genes transmitted from parent to child
-known genetic cause
QUESTION:familial
Ans: subgroup of congenital and hereditary.
refers to feature that is seen in multiple members of a family, but not necessarily
linked to one specific gene.
-unknown precise, genetic etiology
-ex. diabetes, cancers, hypertension
QUESTION:genetic
Master01 | 2025/2026 | Latest update
, 2
Ans: subgroup of congenital
-mutation in a gene
-may or may not be hereditary
QUESTION:acquired
Ans: happens with no genetic component
-ex. melanoma
QUESTION:congenital hearing loss
Ans: -1-3 in 1,000 births (only 50% accounted for by genetics)
-70% is non-syndromic (most of the genes are recessive 80%)
QUESTION:Where in genes are hearing losses found?
Ans: majority on autosomes (not sex-linked)
~20% on x-chromosome linked
QUESTION:how many syndromes are associated with hearing loss?
Master01 | 2025/2026 | Latest update
, 3
Ans: over 500 known
-over 120 known genes for hearing loss
QUESTION:four mutations to detect deafness at birth
Ans: -connexin mutations - one of leading causes of deafness (GJB2 and GJB6
genes)
-mtDNA A1555G mutation - increased aminoglycoside induced deafness
-SLC26A4 mutations - Pendred syndrome, EVA
-Citomegalovirus (CMV) - not disorder but tested at birth
QUESTION:GJB2
Ans: Gap Junction Beta 2 protein
-identified 1997
-Connexin 26: allows ion transfer between cells
-most common cause of SNHL
-12-24% of permanent HL in kids
QUESTION:DFNB4
Master01 | 2025/2026 | Latest update
, 4
Ans: -mutation in SLC26A4 gene
-autosomal recessive
-bilateral, severe to profound SNHL
-EVA or mondini malformations
QUESTION:mitochondrial hearing loss
Ans: -very rare
-mutations in MTRNR1 and MTTS1
-maternal inheritance
-highly variable onset
-variable hearing loss
QUESTION:Crouzon Syndrome
Ans: -premature fusion of skull bones
-bulging eyes and strabismus (eyes angled either inward or outward)
-typically show normal intelligence
-autosomal dominant (genetic mutation that is not necessarily hereditary)
QUESTION:Findings and Interventions for Crouzon Syndrome
Master01 | 2025/2026 | Latest update
