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ABGC2 > Disorders (2) > Flashcards

Disorders (2) Flashcards

1
Q

What is the molecular cause of fragile X?

A

CGG repeat expansion in FMR1 gene leading to methylation of the gene

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2
Q

What is the breakdown of repeat numbers in fragile X syndrome?

A
  • intermediate = 45-54
  • premutation = 55-200
  • full mutation = >200
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3
Q

Name 9 features of fragile X syndrome

A
  • DD
  • MR
  • autistic features
  • hand flapping
  • prominent jaw
  • prominent forehead
  • big ears
  • long face
  • machroorchidism
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4
Q

What percentage of people with fragile X syndrome have a repeat expansion

A

> 99%

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5
Q

Does anticipation occur in fragile X syndrome?

A

yes, with maternal transmission

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6
Q

Order the following from most to least heritable: schizophrenia, major depressive disorder, bipolar disorder,

A
  • bipolar: up to 93%
  • schizophrenia: up to 90%
  • major depressive: up to 42%
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7
Q

Are most triplet repeat expansions located in the coding or noncoding regions?

A

noncoding;

exceptions: HD, SCA

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8
Q

What is the inheritance pattern of Friedrich’s ataxia?

A

AR

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9
Q

What triplet repeat causes Friedrich’s ataxia and where in the gene is it located?

A

GAA repeat

noncoding region

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10
Q

When does Friedrich’s ataxia typically onset?

A

between 1 and 15 years

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11
Q

Does expansion occur in Friedrich’s ataxia?

Anticipation?

A

expansion through maternal transmission,

no anticipation

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12
Q

What percentage of ALS is familial?

A

10%

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13
Q

What is the average age on onset of familial ALS?

A

46 y

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14
Q

What percentage of ALS patients develop FTD?

A

20%

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15
Q

Name 6 main features of Rett syndrome

A
  • regression of language
  • regression of motor skills
  • hand movements
  • seizures
  • acquired microcephaly
  • prolonged QT
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16
Q

What are the subtypes and corresponding inheritance patterns for LGMD?

A

LGMD1: AD inheritance
LGMD2: AR inheritance

17
Q

What is the natural history of Meckel-Gruber syndrome?

A

neonatal lethal

18
Q

What 7 things should be ruled out when considering an Alzheimer’s diagnosis?

A
  • thyroid disease
  • vitamin deficiency
  • brain tumor
  • drug intoxication
  • chronic infection
  • depression
  • stroke
19
Q

What percentage of achondroplasia cases are de novo?

A

80%

20
Q

What is the protein substitution that causes nearly all cases of achondroplasia?

A

Gly380Arg

21
Q

What are drusen?

A

small deposits in the eye which are the hallmark feature on exam for age-related macular degeneration

22
Q

What type of vision does age-related macular degeneration affect?

A

central

23
Q

What is the inheritance pattern of CHARGE syndrome?

A

AD

24
Q

What are the main features of CHARGE syndrome?

A 
Coloboma
Heart defects
Atresia of the choanae
Retardation of growth and development
Genital abnormalities
Ear anomalies
25
Q

What does atresia of the choanae mean?

A

blockage of the nasal passage

26
Q

What are two acronym disorders with clinical overlap?

A

VATER and CHARGE

27
Q

What is the natural history of CHARGE syndrome?

A

often mortality in the first year of life (20-25%)

28
Q

What disease is the Philadelphia chromosome associated with?

A

chronic myelogenous leukemia

29
Q

What is the Philadelphia chromosome?

A

translocation t(9;22) causing a fusion of two genes to create the fusion gene BRC-ABL

30
Q

What is the therapy for chronic myelogenous leukemia?

A

bone marrow transplant

31
Q

What is the risk of a sibling of someone with Crohn disease to be affected?

A

1-8%

32
Q

What is a Kayser-Fleicher ring and what disorder is it associated with?

A

a dark ring in the iris due to copper deposits seen in Wilson disease

33
Q

What are 4 main features of Timothy syndrome?

A
  • cardiac (long QT, CHD)
  • hand/foot syndactyly
  • distinct facial features
  • neurodevelopmental delay / ASD
34
Q

What type of Parkinson’s disease is PARK2 associated with?

A

juvenile onset

35
Q

What percentage of all Parkinson’s disease cases have a positive family history?

A

15%

36
Q

In fragile X syndrome, what are the cutoffs for a premutation (surrounded by intermediate and full mutation)?

A

55 - 200

37
Q

What are 3 features of Meckel-Gruber syndrome?

A
  • occipital encephalocele
  • cystic kidneys
  • postaxial polydactyly
38
Q

What is the natural history of CHARGE syndrome?

A

20-25% mortality in first year of life

39
Q

What subpopulation has a higher risk of Crohn disease?

A

Ashkenazi jewish

ABGC2 (12 decks)

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