Term
-There are ___ pairs of chromosomes in each cell. One
chromosome of each pair is inherited from the mother and the other from the father
___ are segments of the chromosomes that provide the body with instructions for growth, development and function
-When something happens to a gene to change it into a new variant, this is referred to as ___ |
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Definition
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Term
-Historical estimates indicate that approximately ___ of children identified with a permanent hearing loss have a genetic cause and the rest have an ___ or ___ cause
-Approximately ___ of genetic hearing loss is syndromic,
indicating that it is associated with additional ___ problems |
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Definition
| half; environmental or unknown; one third; medical |
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Term
Genetic hearing loss can be subdivided by mode of inheritance:
-Dominant inheritance-___% of cases
-Recessive inheritance-___ % of cases
-X linked inheritance-___% of cases
-Mitochondrial inheritance- _____ of cases |
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Definition
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Term
-Dominant inheritance happens when a mutation is passed in a dominant way, meaning that only ___ copy of the gene needs to have mutation to cause the resulting condition.
-Therefore if one parent has the dominant mutation there is a ___% chance the child will have the same mutation and therefore the same condition |
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Definition
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Term
| Most common type of autosomal dominant syndromic hearing loss |
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Definition
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Term
Waardenburg Syndrome:
-What is hearing loss like?
-What are some other physical characteristics?
-Cognition? |
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Definition
-pre-lingual, non-progressive bilateral profound SNHL
-changes in pigmentation of the hair, skin and eyes. Eye color is pale blue or a combination of two colors in one eye or a difference color in each eye. The eyes also appear widely spaced. Distinctive hair coloring, such as a patch of white hair or premature greying
-normal to high cognition |
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Term
Second most common type of autosomal dominant syndromic
hearing loss |
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Definition
| Brachio-Oto- Renal (BOR) Syndrome |
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Term
Brachio-Oto- Renal (BOR) Syndrome:
-What is it characterized by?
-What happens to the ears? |
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Definition
-Branchial and kidney malformations and different kinds of hearing loss
-Malformations of the branchial arches may include cupping of
the outer ear, pits in front of or on the outer ear, tags of skin in
front of the ear and cysts or fistulas on the neck. Some degree of HL is present and possible enlarged vestibular aqueducts (EVA). |
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Term
| What kind of HL is involved with EVA and how is it usually treated? |
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Definition
| profound HL. Usually treated with implants |
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Term
| Is a dominant syndrome characterized by coloboma, heart defects, choanal atresia, retarded growth and development, genital abnormalities and ear abnormalities |
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Definition
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Term
| What is HL like with CHARGE syndrome? |
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Definition
Hearing loss is one of the most common features, can be SNHL
or conductive because of the presence of Mondini or ossicular
malformations |
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Term
Recessive inheritance happens when there are ___ in both copies of a gene (one from each parent). Individuals with
one recessive gene are called ___ and are not affected by the condition. If each parent has one recessive mutation, each
child has a ___% chance of having the condition and a ___% chance of being an unaffected carrier |
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Definition
| mutations; carriers; 25; 50 |
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Term
Most common form of recessive syndromic hearing loss and is
characterized by congenitial severe to profound SNHL, structural defects of the temporal bone and inner ear and thyroid goiter |
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Definition
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Term
Pendred Syndrome:
-Goiter is not present at birth and develops in early puberty (___%) or adulthood (___%)
-Temporal bone abnormalities consist of dilation of the ___ ___ with or without hypoplasia, such as ___ ___ or ___ ___
-Treatment? |
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Definition
| 40; 60; vestibular aqueduct (EVA); common cavity (no turns in cochlea) or Mondini malformation (less turns in cochlea like 1.5); Many get implanted |
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Term
| Is a recessive syndrome characterized by dual sensory impairments (hearing and sight) |
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Definition
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Term
Usher Syndrome:
-Affected individuals are born with ___ hearing loss and early in life develop ___ ___ with or without vestibular abnormalities
-Usher Syndrome affects more than __% of the deaf/blind in the United States
-How many types (based on severity of HL, RP and presence of vestibular abnormalities)?
-RP is a progressive degeneration of the rod and cone functions of the retina, first causes ___ blindness and ___ vision and later results in loss of ___ vision, most individuals do not typically go ___ |
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Definition
| sensorineural; retinits pigmentosa (RP); 50; 3; night; tunnel; day; blind |
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Term
Recessive syndrome characterized by congenital SNHL and
prolongation of the QT intervals detected by electrocardiography. Long QT is associated with
arrhythmias that can result in fainting or sudden death |
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Definition
| Jervell and Lange-Nielsen Syndrome |
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Term
| X linked inheritance occurs because of the X and Y chromosomes, called ___ chromosomes. if one X chromosome has a recessive mutation, the second chromosome can provide a normal copy of the gene so the condition ___ occur. In men, the Y chromosome cannot provide a normal copy of the gene, so the condition ___ occur. Therefore, the condition is usually only seen in ___. If the mother has the mutation on one copy of her X chromosomes, each female child has a ___% chance of being a carrier and each male will have a ___% chance of having hearing loss. |
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Definition
| sex; will not; will; males; 50; 50 |
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Term
Alport Syndrome:
-Dominant, recessive, x-linked, or mitochondrial?
-Characterized by ___ ___ ___ hearing loss of varying degrees, progressive merulonephritis leading to end stage ___ disease and variable ___ findings
-Hearing loss usually does not manifest before the ___ decade
of life
-Inheritance pattern depends on the gene affected, X linked
(___%), autosomal recessive (___%) or autosomal dominant (___%)
-Hearing loss is never ___, initially affects ___ frequencies with progression to all frequencies over time |
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Definition
-usually x-linked
-progressive postlingual sensorineural; renal; ophthalmologic;
-first
-80; 15; 5;
-congenital; high |
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Term
Mohr-Tranebjaerg Syndrome (deafness-dystonia-optic atrophy syndrome (DDON))
-Dominant, recessive, x-linked, or mitochondrial?
-___ ___ hearing impairment additional to ___ disability, ___, ___, and ___ disability
-______ is often the first symptom and most affected individuals have ___ hearing loss by age 10
-Individuals with this condition may also have ___ problems, including changes in ___ and ___ or paranoid behaviors. There is also typically a gradual decline in thinking and reasoning abilities (___) by age 40. |
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Definition
-X-linked
-Progressive post-lingual; visual; dystonia (abnormal muscle tone resulting in spasms and abnormal posture); fractures; intellectual
-Hearing loss; profound
-behavior; personality; aggressive; dementia |
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Term
Mitochondrial inheritance comes from genes inside the
mitochondria within each of our cells. Unlike most genes,
which are passed by each parent, mitochondria are passed on by the ___ only. This means if the mother has hearing loss mutation in one of her mitochondrial genes, she will pass it on to ___ of her children. |
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Definition
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Term
Mitochondrial Inheritance:
Only comes from ___, like X-linked. Gets passed to ___. ___% chance of passing to your kid if you are a woman |
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Definition
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Term
Mitochondrial Hearing Loss:
-___ sensitivity
-Highly ___ hearing loss, can begin anytime from birth to
late adulthood |
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Definition
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Term
| Most common mutation of permanent SNHL in children with mitochondrial inheritance. |
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Definition
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Term
Connexin 26:
-Typically ___
-___ frequencies have been reported in individuals of Spanish, French and Ashkenazi Jewish descent |
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Definition
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Term
Auditory Neuropathy Spectrum Disorder (ANSD):
-What kind of inheritance?
-Complex type of hearing loss with multiple etiologies including ___ and ___. Some syndromes such as __________ disease and ___ ___ are associated with ANSD.
-Hearing loss is typically ___-lingual and ___ to ___ |
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Definition
-Mitochondrial
-environmental; genetic; Charcot-Marie-Tooth; Friedreich ataxia; pre; moderate to profound |
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Term
-As with any condition that may be genetic, it is recommended that families see a ___ ___
-Can provide information about on the ___, ___ and implications of the conditions |
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Definition
| genetic counselor; nature; inheritance; |
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