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Genetic conditions relevant to psychiatry Flashcards

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Biology 101 flashcards
1
Q

Mutation present in DiGeorge syndrome

A

22q11.2 deletion - microdeletion of ~30-40 genes on the long arm of chromosome 22

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2
Q

Percentage of cases of DiGeorge syndrome which are due to de novo deletion

A

10%

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3
Q

Inheritance pattern for cases of DiGeorge syndrome which are inherited

A

Autosomal dominant

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4
Q

Risk of a child of one affected parent and one unaffected parent inheriting DiGeorge syndrome

A

50%

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5
Q

Percentage of patients with DiGeorge syndrome who develop schizophrenia

A

25%

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6
Q

Features of DiGeorge syndrome

A 
Congenital heart disease
Cleft palate
Mild-moderate learning difficulties
Hypocalcaemia due to hypoparathyroidism
Small thymus and immunodeficiency
Psychosis
Hearing difficulties
Swallowing difficulties
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7
Q

Mutation present in Williams syndrome

A

7q11 microdeletion

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8
Q

Inheritance pattern of inherited cases of Williams syndrome (small percentage of total cases; most are de novo deletions)

A

Autosomal dominant

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9
Q

Psychological and cognitive features of Williams syndrome

A 
Moderate intellectual disability
Specific visuospatial difficulties
Lack of social inhibition
Higher than expected verbal skills for IQ
Anxiety
Increased rate of autism and ADHD
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10
Q

Physical features of Williams syndrome

A 
Broad forehead
Elf-like facial appearance
Epicanthic folds
Small jaw
Large mouth and tongue
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11
Q

Medical conditions associated with Williams syndrome

A

Hypercalcaemia
Supravalvular aortic stenosis
Hyperacusis
Abdominal pain

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12
Q

Mutation occurring in Smith-Magenis syndrome

A

17p11.2 microdeletion

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13
Q

Behavioural and psychological features of Smith-Magenis syndrome

A

Disrupted sleep patterns
Self injury behaviours
Self hugging
Moderate to severe learning disability

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14
Q

Physical features of Smith-Magenis syndrome

A

Broad, square face
Deep set eyes
Heavy eyebrows
Full lips

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15
Q

Mutation occurring in Angelman syndrome

A

15q11-13 deletion maternally inherited

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16
Q

Features of Angelman syndrome

A 
Severe intellectual disability
Speech impairment - little spoken language compared to expected for developmental stage
Tremulous limb movements and ataxia
Frequent laughing, happy demeanour
Seizures
Uplifted, flexed arms when walking
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17
Q

Mutation occurring in Prader-Willi syndrome

A

15q11-13 deletion paternally inherited

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18
Q

Features of Prader-Willi syndrome at birth

A

Hypotonia
Low birth weight
Feeding difficulties
Lethargy

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19
Q

Physical features of Prader-Willi syndrome

A 
Small hands and feet
Obesity
Short stature
Light skin and hair compared to family
Thin top lip
Downturned mouth
Reduced sexual development
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20
Q

Developmental and behavioural features of Prader-Willi syndrome

A 
Mild/borderline intellectual disability
Poor spoken language
Hyperphagia
Skin picking
Poor coordination
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21
Q

Mutation occurring in Cri-du-chat syndrome

A

5p deletion

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22
Q

Non-facial features of cri du chat syndrome

A 
High pitched cry
Difficulty swallowing and feeding
Low birth weight and poor growth
Hyperactivity and aggression
Repetitive movements
Severe intellectual disability
Poor speech
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23
Q

Facial features of cri du chat syndrome

A 
Microcephaly
Epicanthic folds
Round face
Small chin
Low set ears
Wide set eyes
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24
Q

Mutation present in Wolf-Hirschborn syndrome

A

4p16 deletion

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25
Q

Features of Wolf-Hirschborn syndrome

A

Severe intellectual disability
Growth impairment
Seizures
‘Greek warrior helmet’ face

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26
Q

Inheritance pattern of Rubinstein-Taybi syndrome

A

Autosomal dominant

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27
Q

Mutation present in Rubinstein-Taybi syndrome

A

16p13.3 microdeletion

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28
Q

Features of Rubinstein-Taybi syndrome

A 
Short stature
Moderate to severe intellectual disability
Broad thumbs and first toes
Undescended testes in males
Microcephaly
Complications from anaesthesia
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29
Q

Chromosome pattern seen in Turner syndrome

A

45 X0

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30
Q

Chromosome pattern seen in Klinefelter syndrome

A

47 XXY

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31
Q

Chromosome pattern seen in Jacob’s syndrome

A

47 XYY

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32
Q

Features of Jacob’s syndrome

A

Intellectual disability
Tall stature
Normal fertility and sexual development
Behavioural issues (thought to relate to intellectual disability and low socioeconomic status which is over-represented in Jacob’s syndrome)

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33
Q

Features of Klinefelter syndrome

A 
Infertility
Reduced body and facial hair
Small testes
Gynaecomastia
Shy personality
Mild intellectual disability
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34
Q

Inheritance pattern of tuberous sclerosis

A

Autosomal dominant - 2/3 of cases are de novo mutations

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35
Q

Sites of mutations causing tuberous sclerosis

A

9q34

16p13

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36
Q

Neurological and psychiatric features of tuberous sclerosis

A

Increased risk of brain tumours especially astrocytoma
Seizures
Hydrocephalus
Aggressive behaviour
Increased rate of autism and ADHD
Variable degree of intellectual disability

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37
Q

Dermatological features of tuberous sclerosis

A

Ash leaf macules
Shagreen patches
Facial angiofibromas
Ungual fibromas - small tumours under the toenails and fingernails

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38
Q

Non-neurological or dermatological features of tuberous sclerosis

A

Benign kidney tumours
Benign cardiac tumours
Retinal hamartomas

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39
Q

Inheritance pattern of Treacher Collins syndrome

A

Autosomal dominant (usually - rare mutations can cause an autosomal recessive form)

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40
Q

Primary mutation site causing Treacher Collins syndrome

A

5q32

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41
Q

Features of Treacher Collins syndrome

A 
Underdeveloped facial bones
Small jaw and chin
Cleft palate
Airway collapse due to underdeveloped facial bones in severe cases
Downward slanting eyes
Absent or small ears
Hearing loss
Usually no intellectual disability
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42
Q

Inheritance pattern of Apert syndrome

A

Autosomal dominant - but almost all cases are sporadic

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43
Q

Mutation site for Apert syndrome

A

10q

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44
Q

Features of Apert syndrome

A 
Craniosynostosis
Syndactyly
Polydactyly
Mild to moderate intellectual disability
Hearing impairment
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45
Q

Inheritance pattern of Noonan syndrome

A

Autosomal dominant

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46
Q

Most common mutation site for Noonan syndrome

A

12q24

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47
Q

Features of Noonan syndrome

A 
Widely spaced eyes
Low set and backward rotated ears
Deeply grooved philtrum
Short stature
Congenital heart disease - especially pulmonary valvular stenosis
Webbed neck
Intellectual impairment
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48
Q

Inheritance pattern of Hurler syndrome

A

Autosomal recessive

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49
Q

Alternative name for Hurler syndrome

A

Mucopolysaccharidosis type I

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50
Q

Features of Hurler syndrome

A

Features usually become apparent in the first year
Short stature
Coarse facial features
Developmental delay beginning at ~1 year and deteriorating after 2-3 years
Clouded corneas
Death by around age 10

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51
Q

Mutation site for Hurler syndrome

A

4p16

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52
Q

Alternative name for Hunter syndrome

A

Mucopolysaccharidosis type II

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53
Q

Inheritance pattern of Hunter syndrome

A

X-linked recessive

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54
Q

Features of Hunter syndrome

A

Similar to Hurler syndrome
Coarse facial features
Developmental decline and loss of skills after 1-2 years
Death at a young age

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55
Q

Alternative name for Sanfilippo syndrome

A

Mucopolysaccharidosis type III

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56
Q

Inheritance pattern of Sanfilippo syndrome

A

Autosomal recessive

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57
Q

Features of Sanfilippo syndrome

A

Similar to the other mucopolysaccharidoses
Coarse facial features
Progressive loss of skills after age 1-2
Death at an early age

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58
Q

Inheritance pattern of Lesch-Nyhan syndrome

A

X-linked recessive

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59
Q

Site of mutation for Lesch-Nyhan syndrome

A

Xq26-27

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60
Q

Features of Lesch-Nyhan syndrome

A

Overproduction of uric acid
Kidney stones
Gout
Moderate intellectual disability
Self injury behaviours
Dystonia, hyperreflexia, spasticity - usually unable to walk
Death in first or second decade due to kidney failure

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61
Q

Deficient enzyme in Lesch-Nyhan syndrome

A

Hypoxanthine-guanine phosphoribosyltransferase

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62
Q

Inheritance pattern of Rett syndrome

A

X-linked dominant (but almost always de novo mutation)

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63
Q

Features of Rett syndrome

A

Affects females only - causes death in utero in males
Normal development until 6-18 months
Loss of skills and language after 18 months
Characteristic hand movements e.g. hand wringing
Development of seizures
Plateau stage until ~10 years
Motor deterioration after age 10

64
Q

Inheritance pattern of MELAS syndrome

A

Mitochondrial

65
Q

Full name of MELAS syndrome

A

Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes

66
Q

Features of MELAS syndrome

A

Build up of lactic acidosis leading to vomiting, abdominal pain, fatigue
Stroke-like episodes with altered consciousness, seizures, altered vision and headaches
Risk of progressive brain damage due to the stroke-like episodes

67
Q

Inheritance pattern of Leber’s hereditary optic neuropathy

A

Mitochondrial

68
Q

Features of Leber’s hereditary optic neuropathy

A

Acute visual loss in one eye, with visual loss in the other eye weeks to months later, usually in young adulthood

69
Q

Inheritance pattern of chronic progressive external ophthalmoplegia

A

Mitochondrial

70
Q

Features of chronic progressive external ophthalmoplegia

A

Gradually worsening inability to move the eyes and eyebrows

71
Q

Inheritance pattern of MERRF syndrome

A

Mitochondrial

72
Q

Full name of MERRF syndrome

A

Myoclonic epilepsy with ragged red fibres

73
Q

Inheritance pattern of Kearns-Sayre syndrome

A

Mitochondrial

74
Q

Features of Kearns-Sayre syndrome

A 
Chronic progressive external ophthalmoplegia
Retinitis pigmentosa
Cerebellar ataxia
Proximal muscle weakness
Deafness
75
Q

Trinucleotide repeat seen in fragile X syndrome

A

CGG

76
Q

Trinucleotide repeat seen in Friedreich’s ataxia

A

GAA

77
Q

Trinucleotide repeat seen in Huntington’s chorea

A

CAG

78
Q

Trinucleotide repeat seen in myotonic dystrophy 1

A

CTG

79
Q

Inheritance pattern of Friedreich’s ataxia

A

Autosomal recessive

80
Q

Deficient protein in Friedreich’s ataxia

A

Frataxin

81
Q

Features of Friedreich’s ataxia

A 
Start of symptoms in childhood
Ataxia
Dysarthria
Loss of lower limb reflexes
Heart problems including cardiomegaly
Scoliosis
Usually gradual loss of mobility leading to require a wheelchair by ~30
82
Q

Inheritance pattern of fragile X syndrome

A

X-linked dominant

83
Q

Male:female ratio of fragile X syndrome

A

2:1

84
Q

Reason for fewer females being affected by fragile X syndrome

A

Females have another X chromosome which can compensate to some extent

85
Q

Number of CGG repeats which generally leads to fragile X

A

> 52 - destabilises the area leading to further expansion during gamete production

86
Q

Gene affected in fragile X syndrome

A

FMR1

87
Q

State of people who carry the increased number of CGG repeats for fragile X syndrome but do not clinically have fragile X syndrome

A

Premutation carriers

88
Q

Medical complications of male premutation carriers for fragile X

A

Intention tremor

Ataxia

89
Q

Medical complications for female premutation carriers for fragile X

A

Premature ovarian failure

Mild cognitive disabilities

90
Q

Physical features of fragile X syndrome

A 
Large, protruding ears
Long face
Hyper flexibility
Macro orchidism
Hypotonia
Cluttered speech
91
Q

Behavioural and psychiatric features of fragile X syndrome

A

Autism in up to 60%
ADHD in most males
Moderate intellectual disability
Social anxiety

92
Q

Inheritance pattern for Huntington’s disease

A

Autosomal dominant

93
Q

Mutation site for Huntington’s disease

A

4p16.3

94
Q

Protein affected in Huntington’s disease

A

Huntingtin

95
Q

Usual age of onset of Huntington’s disease

A

30-50

96
Q

Affected parent associated with increased anticipation in Huntington’s disease (due to greater repeat expansion during gamete production)

A

Father

97
Q

Number of CAG repeats required to present with Huntington’s disease

A

> 35

98
Q

Features of Huntington’s disease

A 
Huntington's chorea
Impairment of gross motor skills
Difficulty swallowing
Worsening cognition and eventually dementia
Anxiety
Depression
Impulsivity
99
Q

Inheritance pattern of myotonic dystrophy

A

Autosomal dominant

100
Q

Features of myotonic dystrophy

A 
Muscle weakness
Early cataracts
Heart disease including arrhythmias and conduction delays
Frontal balding
Bilateral ptosis
101
Q

Diseases caused by a deletion on chromosome 15, differing due to genomic imprinting

A

Prader Willi syndrome - paternally inherited

Angelman syndrome - maternally inherited

102
Q

Gene and chromosome affected in myotonic dystrophy 1

A

DMPK gene on chromosome 19

103
Q

Inheritance pattern of Wilson’s disease

A

Autosomal recessive

104
Q

Inheritance pattern of red green colour blindness

A

X-linked recessive

105
Q

Inheritance pattern of haemophilia

A

X-linked recessive

106
Q

Inheritance pattern of Duchenne muscular dystrophy

A

X-linked recessive

107
Q

Inheritance pattern of Marfan’s syndrome

A

Autosomal dominant

108
Q

Inheritance pattern of neurofibromatosis

A

Autosomal dominant

109
Q

Chromosome affected in neurofibromatosis type I

A

17

110
Q

Chromosome affected in neurofibromatosis type II

A

22

111
Q

Features of neurofibromatosis type I

A

Café-au-lait spots on the skin
Axillary freckling
Neurofibromas
Behavioural difficulties

112
Q

Features of neurofibromatosis type II

A

Acoustic neuromas leading to tinnitus and hearing loss

Young onset cataracts

113
Q

Inheritance pattern of homocystinuria

A

Autosomal recessive

114
Q

Laboratory findings for homocystinuria

A

Increased levels of homocysteine in the urine

115
Q

Features of homocystinuria

A 
Downward dislocation of the lens of the eye
Short sightedness
Intellectual disability
Seizures
Marfanoid habitus and pectus excavatum
116
Q

Features of Marfan syndrome

A

Tall thin habitus with long arms and legs
Lens dislocation and short sightedness
Flexible joints
Cardiovascular complications especially valve prolapse and aortic aneurysm or dissection

117
Q

Inheritance pattern of phenylketonuria

A

Autosomal recessive

118
Q

Protein which has decreased metabolism in phenylketonuria

A

Phenylalanine

119
Q

Features of untreated PKU

A 
Seizures
Intellectual disability
Musty odour
Fair hair and skin compared to family
Microcephaly
120
Q

Features of Duchenne muscular dystrophy

A

Proximal muscle weakness starting in early childhood
Gower’s sign
Calf pseudohypertrophy
Intellectual impairment in 30%

121
Q

Inheritance pattern of Becker muscular dystrophy

A

X-linked recessive

122
Q

Features of Becker muscular dystrophy

A

Symptoms start after age 10
Progressive weakness similar to DMD
Intellectual impairment less common than in DMD

123
Q

Inheritance pattern of Coffin-Lowry syndrome

A

X-linked dominant

124
Q

Features of Coffin-Lowry syndrome

A 
Severe intellectual disability
Sleep apnoea
Drop attacks
Flattened nose
Downward sloping eyes
Short stature
125
Q

Inheritance pattern of Niemann-Pick disease

A

Autosomal recessive

126
Q

Features of Niemann-Pick disease

A

Hepatosplenomegaly and abdominal distention
Ataxia
Dysarthria
Progressive loss of intellectual abilities and dementia type presentation

127
Q

Gene and chromosome affected in Huntington’s disease

A

HTT gene on chromosome 4

128
Q

Genes affected by tuberous sclerosis

A

TSC1

TSC2

129
Q

Genes affected by tuberous sclerosis

A

TSC1

TSC2

130
Q

Gene affected in Huntington’s disease

A

HHT/IT15 (alternative names for the same gene)

131
Q

Features of CADASIL

A 
Symptoms start aged 35-55
Migraines
TIAs and strokes
Mood disorders
Later in life dementia and pseudobulbar palsy
132
Q

Gene and chromosome affected in CADASIL

A

Notch3 gene on chromosome 19

133
Q

Genetic cause of Cornelia de Lange syndrome

A

Spontaneous mutation in vast majority of cases

500 genetic mutations associated

134
Q

Clinical features of Cornelia de Lange syndrome

A 
Long and thick eyebrows
Short nose
Downturned mouth
Long, smooth philtrum
Intellectual disability
Microcephaly
Autistic behaviours
135
Q

Alternative name for Wilson’s disease

A

Hepatolenticular degeneration

136
Q

Features of Wilson’s disease

A

Features of liver disease - varices, ascites, spider angiomata, fulminant liver failure
Cognitive decline
Seizures
Depression, anxiety, psychosis
Kayser-Fleischer rings on slit lamp examination

137
Q

Ages of patients with Wilson’s disease presenting with neuropsychiatric symptoms vs. liver symptoms

A

Patients presenting with liver symptoms present younger

138
Q

Inheritance pattern of CADASIL

A

Autosomal dominant

139
Q

Features of triple X syndrome

A

May have no features
Usually normal sexual development and fertility
Often global developmental delay
Tall stature

140
Q

Enzyme affected in PKU

A

Phenylalanine hydroxylase

141
Q

Features of Kallmann syndrome

A

Hypogonadotropic hypogonadism - infertility, poorly defined secondary sexual characteristics
Anosmia

142
Q

Condition associated with mutations in the Kiss1 gene

A

Kallmann syndrome

143
Q

Inheritance pattern of Tay-Sachs disease

A

Autosomal recessive

144
Q

Ethnic group with increased risk of Tay-Sachs disease

A

Ashkenazi Jews

145
Q

Gene and chromosome affected in Tay-Sachs disease

A

HEXA gene, chromosome 15

146
Q

Features of infantile Tay-Sachs disease (most common form)

A

Loss of motor abilities at 3-6 months
Seizures
Hearing loss
Death by age 3-5

147
Q

Disease characterised by idiopathic basal ganglia calcification

A

Fahr disease

148
Q

Clinical features of Fahr disease

A

Clumsiness
Involuntary movements
Gait disturbance
Psychosis and cognitive impairment

149
Q

Inheritance pattern of Fahr disease

A

Autosomal dominant

150
Q

Age Fahr disease typically presents at

A

40-60

151
Q

Distinction sometimes made between Fahr disease and Fahr syndrome

A

Fahr disease is the autosomal dominant genetic disease causing basal ganglia calcification
Fahr syndrome is basal ganglia calcification due to secondary causes

152
Q

Chromosome affected in myotonic dystrophy

A

19

153
Q

Inheritance pattern of haemochromatosis

A

Autosomal recessive

154
Q

Inheritance pattern of Leigh syndrome

A

Mitochondrial

155
Q

Most common cause of death among patients with Down syndrome

A

Heart disease

156
Q

Enzyme deficient in Niemann-pick disease

A

Sphingomyelinase

157
Q

Most common presentation of Klinefelter syndrome

A

Infertility

Genetics (9 decks)

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