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Genetics Final
Genetics
81
Audiology
Graduate
04/25/2018

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Term
This disorder is categorized as having dementia (which develops in the early 40s), SNHL in childhood, optic atrophy in early adulthood, and dystonia and ataxia in adolescence.
Definition
Deafness-Dystonia-Optic-Neuronopathy Syndrome (DDONS)
Term
What is the mode of inheritance for Deafness-Dystonia-Optic-Neuronopathy Syndrome? What gene was identified?
Definition
X-linked recessive; TIMM8A
Term
This syndrome is characterized by premature fusion of certain skull bones, webbed or fused fingers and toes, a sunken middle face, bulging and wide set eyes, a beaked nose, normal to moderate intellectual disability, and more
Definition
Apert syndrome
Term
What kind of hearing loss is associated with Apert Syndrome? Mode of inheritance?
Definition
Usually a mild-moderate CHL due to OM. It can be SNHL or even normal hearing though. Autosomal dominant.
Term
A condition that causes profound hearing loss from birth and a disruption of the heart’s normal rhythm. This disruption in rhythm is the result of a prolonged QT interval
Definition
Jervell and Lange-Nielsen syndrome (JLNS)
Term
What is the inheritance pattern for JLNS? What gene is affected?
Definition
Autosome recessive; KCNQ1 and KCNE1
Term
What are the auditory characteristics of JLNS?
Definition
Profound congenital SNHL, bilaterally. The stria vascularis is usually affected
Term
What does CHARGE stand for?
Definition
Coloboma, heart defects, atresia, growth retardation, genital abnormalities, and ear abnormalities
Term
What kind of HL is associated with CHARGE?
Definition
There isn't a typical HL. The most common form is an asymmetrical mixed HL.
Term
What gene is mutated for CHARGE?
Definition
CHD7
Term
What are some ear malformations with CHARGE?
Definition
soft and floppy ears, stenotic canals, ossicular malformations, often malformed/missing cochlea, missing SCC, and/or auditory neural structures are reduced/absent
Term
What is the mode of inheritance of CHARGE?
Definition
autosomal dominant
Term
What mode of inheritance is Hunters Syndrome?
Definition
X-linked recessive
Term
Hunter's Syndrome is an inherited genetic disorder caused by a missing or malfunctioning ___. Because the body doesn't have enough of the enzyme to break down certain complex molecules, the molecules build up in ___ amounts. The symptoms include ___ ___, ___ facial features (large forehead, thick neck, tongue and lips, bushy eyebrows, and flattened nose), ___ can be impaired, HL, ___ stiffness, ___ ___ syndrome, sleep apnea, poor ___ vision, thickening of the ___ ___, obstructive ___ disease, enlarged ___ and ___, and frequent bouts of ___
Definition
enzyme; harmful; stunted growth; coarse; intelligence; joint; carpal tunnel; peripheral; heart valves; airway; liver and spleen; OM
Term
What is the life expectancy for Hunter's Syndrome?
Definition
10-20 years
Term
What kind of HL is associated with Hunter's Syndrome?
Definition
Moderate mixed HL mixed/conductive HL
Term
Very rare genetic disease resulting from a lack of phytanoyl-CoA hydroxylase enzymes in peroxisomes that break down phytanic acid. Characterized by retinitis pigmentosa, loss of smell (anosmia), sensory motor neuropathy, bilateral mild-profound SNHL (mid and high frequencies), dry scaly skin, short metacarpals and metatarsals, and cardiac arrhythmias and cardiomyopathy
Definition
Refsum disease
Term
What mode of inheritance is Refsum Disease? What gene mutation causes this disease?
Definition
Autosomal recessive; PHYH gene
Term
Wildervanchk syndrome is extremely rare and mostly seen in ___. It's characterized as having abnormal union or fusion of two or more bones on the ___ ___, congenital and non-progressive type of ___ due to abnormal development of CN VI (abducens), impaired or absent ability to move the eyes outward (___), inward (___), or both, and a HL that can be ___-___.
Definition
females; cervical vertebrae; strabismus; abduction; adduction; moderate-profound
Term
What kind of mode of inheritance is associated with Wildervanchk Syndrome?
Definition
It's sporadic
Term
What kind of ear malformations are associated with Wildervanchk Syndrome?
Definition
EAC, EAM, ossicles, cochlea, 8th nerve, and bony labyrinth
Term
Pendred syndrome accounts for __-__% of hereditary HL. Features include a ___, ___ malformation, enlarged ___ ___, a bilateral __-__ SNHL and vestibular problems. The HL is seen at ___ or __ years of age
Definition
5-10; goiter; mondini; vestibular aqueducts; severe-profound; birth; 3
Term
What mode of inheritance is associated with Pendred Syndrome?
Definition
Autosomal recessive
Term
This syndrome is characterized by an improper fusion of skull, bulging of the lateral frontal bone, bulging of the eyes, HL, crossed eyes, dental problems, respiratory issues, intracranial issues, hypertension, hydrocephalus, and a beaked shaped nose.
Definition
Crouzon syndrome
Term
What kind of HL is associated with Crouzon Syndrome? Mode of inheritance?
Definition
Conductive HL; dominant
Term
This disease is caused by a change in the NDP gene that is located on the X chromosome which plays an important roll in eye development and creating a blood supply to tissues of the retina, inner ear, and other body systems. Eye problems are the main symptom. Some other symptoms are intellectual disability, dementia, seizures, psychosis, hallucinations, and aggressive behavior
Definition
Norrie disease
Term
What kind of HL is associated with Norrie disease? Mode of inheritance?
Definition
Progressive SNHL; x-linked recessive
Term
This disease is associated with vertigo, fluctuations in hearing, tinnitus, and aural fullness. Symptoms usually start in one ear. Hearing loss is usually in the low frequencies.
Definition
Hereditary Meniere's disease
Term
What mode of inheritance is associated with hereditary meniere's disease?
Definition
possibly autosomal dominant
Term
The major symptoms of this syndrome are hearing loss and an eye disorder called retinitis pigmentosa, or RP. It is the leading genetic cause of deaf-blindness.
Definition
Usher syndrome
Term
What mode of inheritance is associated with Usher Syndrome?
Definition
Autosomal recessive
Term
Otopalatodigital syndrome is a ___ disorder. It affects ___ system development. Identified by a malformation of the ___, underdevelopment of the ___, and disformed bones in ___ and ___.
Definition
spectrum; skeletal; ossicles; palate; fingers and toes
Term
What HL is associated with Otopalatodigital syndrome?
Definition
Conductive or SNHL; can have slow speech
Term
What gender is more commonly affected with Otopalatodigital syndrome?  What is the mode of inheritance?
Definition
Males; x-linked
Term
This disorder makes the body unable to recycle the vitamin biotin
Definition
Biotinidase Deficiency
Term
Where do we get biotin from?
Definition
Eggs and milk
Term
What are some symptoms of Biotinidase Deficiency?
Definition
Hypotonia (state of low muscle tone), HL, vision loss, ataxia, intellectual disability, breathing problems, and possible seizures
Term
What kind of HL is associated with Biotinidase Deficiency? Mode of inheritance?
Definition
Bilateral SNHL ranging from moderate-severe. HL occurs in 75% of children who aren't treated. Hearing/vision loss doesn't return with treatment. Autosomal recessive.
Term
What are the 4 clinical features of BOR syndrome?
Definition
Second branchial arch cleft/sinus, HL (CHL, SNHL, or mixed), malformations of the outer middle and/or inner ear, and renal anomalies
Term
What is the mode of inheritance for Biotinidase Deficiency?
Definition
Autosomal recessive
Term
What is the mode of inheritance of BOR syndrome?
Definition
Autosomal dominant
Term
Is a genetic disorder that effects the connective tissue of the body and presents as a multi-symptom disorder
Definition
Stickler Syndrome
Term
Stickler syndrome occurs in 1/___ births
Definition
7500
Term
What are the 3 hallmark characteristics of Stickler Syndrome?
Definition
Hearing loss (high frequ. SNHL or sometimes CHL), vision problems (cataracts, myopia, and vitreoretinal degeneration), and craniofacial/musuloskeletal problems (loose/flexible joints, early arthritis, and spinal abnormalites)
Term
How many types of Stickler Syndrome are there and what mode of inheritance are each?
Definition
There are 5. Types 1-3 are autosomal dominant and types 4 and 5 are autosomal recessive
Term
How many people does BOR syndrome effect?
Definition
1/40,000
Term
How many people are effected by Otopalatodigital Syndrome? What about Usher Syndrome?
Definition
1/100,000; 1-4 per 25,000 people
Term
Most common Chromosomal disorder caused by additional chromosome 21 during cell division
Definition
Down syndrome
Term
About 1 in every ___ babies are born with Down Syndrome in United States
Definition
700
Term
What are some common physical features of Down Syndrome? Cognitive and developmental? What about hearing loss?
Definition
-Physical: upward slanted eyes, low muscle tone, single deep crease across the palm.
-Intellectual and developmental delays: cognition is affected, language acquisition is effected, and fine motor skills are effected.
-HL: 75% of cases have HL. CHL or mixed HL are most common
Term
Inherited autosomal dominant, auditory-pigmentary disorder. This syndrome affects individuals hearing and pigmentation of irides, skin, and/or hair. A formal diagnosis is made by 2 major criteria or one major feature plus 2 minor criteria.
Definition
Waardenburg Syndrome
Term
60% of people with Waardenburg Syndrome have congenital (non-progressive) ___ ___HL, typically bilaterally
Definition
profound; SNHL
Term
What are some additional features of Waardenburg syndrome?
Definition
A white forelock, heterochromia, skin hypopigmentation, and vestibular anomalies
Term
A rare genetic condition (1 in 50,000) that alter the development of facial bones and tissues in utero. Individuals with this condition will work closely with a multi-disciplinary team of professionals to reach a diagnosis and to decide on a plan for treatment
Definition
Treacher-Collins Syndrome
Term
What are some features of Treacher-Collins?
Definition
-Underdeveloped facial bones
-Small jaw and chin
-Cleft palate
-Downward-slanted eyes
-Sparse eyelashes
-Eyelid coloboma
-Absent, small, or unusually formed ears
-Normal intelligence
Term
What does HL/ears look like in Treacher Collins?
Definition

-50% of cases have HL

-Usually a CHL due to ME abnormalities

-External ear-often absent, small or malformed microtia

-Can have stenotic canals, atresia, and pits and tag

Term
-___ are proteins that form gap junctions within cells, which allow nutrients, ions, and molecules to be transported between cells; forms gap junctions in the stria vascularis, which allows for ions to be transported to endolymph to maintain the high potassium concentration
Definition
Connexins
Term
What are the 2 types of HL associated with Connexin 26 (GJB2 gene)?
Definition
DFNB1 (most common) and DFNA3
Term
What type of HL is associated with Connexin 30 (GJB6 gene)?
Definition
Type DFNA3
Term
What syndrome has kidney problems, eye abnormalities like anterior lenticonus and cataracts, and progressive high frequency SNHL?
Definition
Alport syndrom
Term
What mode of inheritance does Alport Syndrome have?
Definition
80% of cases are X-linked (COL4A5 gene), 15% of cases are autosomal recessive (COL4A3 or COL4A4 gene mutation), and 5% of cases are autosomal dominant (COL4A3 or COL4A4 gene mutation)
Term
What is the mode of inheritance for Wildervanchk syndrome?
Definition
It's sporadic. There is no set pattern.
Term
What gene mutations causes Apert Syndrome?
Definition
FGFR2
Term
What gene mutation causes Hunter's Syndrome?
Definition
IDS
Term
What could possibly cause Wildervanchk syndrome?
Definition
X chromosome deletion or mutation in FGF13
Term
What the most common gene mutation for Treacher Collins?
Definition
TCOF1
Term
What is the gene mutation for Neurofibromatosis type 2?
Definition
NF2
Term
What are the genes for Connexin 26 and Connexin 30?
Definition
26=GJB2
30=GJB6
Term
What is the gene mutation for Pendred Syndrome?
Definition
SLC26A4
Term
What gene mutation causes Crouzon syndrome?
Definition
FGFR2
Term
What gene mutation causes Norrie disease?
Definition
NDP
Term
What possibly causes hereditary meniere's disease?
Definition
A mutation on chromsome 6 on the short arm-region HLA
Term
What gene mutation causes Usher syndrome?
Definition
MYO7A
Term
What gene mutation causes Otopalatodigital syndrome?
Definition
FLNA
Term
What gene mutation causes Biotinidase deficiency?
Definition
BTD
Term
What gene mutations cause BOR syndrome?
Definition
EYA1, SIX1, and SIX5
Term
What gene mutation causes Stickler Syndrome?
Definition
COL2A1
Term
What causes down syndrome?
Definition
an additional chromsome 21
Term
What gene mutation causes Waardenburg Syndrome?
Definition
PAX3
Term
What gene mutation causes Alport syndrome?
Definition
COL4A5
Term
What kind of hearing loss is associated with Refsum Disease?
Definition
bilateral mild-profound SNHL (mid and high frequencies)
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