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Genetic conditions relevant to psychiatry 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
Features of Wolf-Hirschborn syndrome
Severe intellectual disability Growth impairment Seizures 'Greek warrior helmet' face
26
Inheritance pattern of Rubinstein-Taybi syndrome
Autosomal dominant
27
Mutation present in Rubinstein-Taybi syndrome
16p13.3 microdeletion
28
Features of Rubinstein-Taybi syndrome
``` Short stature Moderate to severe intellectual disability Broad thumbs and first toes Undescended testes in males Microcephaly Complications from anaesthesia ```
29
Chromosome pattern seen in Turner syndrome
45 X0
30
Chromosome pattern seen in Klinefelter syndrome
47 XXY
31
Chromosome pattern seen in Jacob's syndrome
47 XYY
32
Features of Jacob's syndrome
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)
33
Features of Klinefelter syndrome
``` Infertility Reduced body and facial hair Small testes Gynaecomastia Shy personality Mild intellectual disability ```
34
Inheritance pattern of tuberous sclerosis
Autosomal dominant - 2/3 of cases are de novo mutations
35
Sites of mutations causing tuberous sclerosis
9q34 | 16p13
36
Neurological and psychiatric features of tuberous sclerosis
Increased risk of brain tumours especially astrocytoma Seizures Hydrocephalus Aggressive behaviour Increased rate of autism and ADHD Variable degree of intellectual disability
37
Dermatological features of tuberous sclerosis
Ash leaf macules Shagreen patches Facial angiofibromas Ungual fibromas - small tumours under the toenails and fingernails
38
Non-neurological or dermatological features of tuberous sclerosis
Benign kidney tumours Benign cardiac tumours Retinal hamartomas
39
Inheritance pattern of Treacher Collins syndrome
Autosomal dominant (usually - rare mutations can cause an autosomal recessive form)
40
Primary mutation site causing Treacher Collins syndrome
5q32
41
Features of Treacher Collins syndrome
``` 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 ```
42
Inheritance pattern of Apert syndrome
Autosomal dominant - but almost all cases are sporadic
43
Mutation site for Apert syndrome
10q
44
Features of Apert syndrome
``` Craniosynostosis Syndactyly Polydactyly Mild to moderate intellectual disability Hearing impairment ```
45
Inheritance pattern of Noonan syndrome
Autosomal dominant
46
Most common mutation site for Noonan syndrome
12q24
47
Features of Noonan syndrome
``` 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 ```
48
Inheritance pattern of Hurler syndrome
Autosomal recessive
49
Alternative name for Hurler syndrome
Mucopolysaccharidosis type I
50
Features of Hurler syndrome
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
51
Mutation site for Hurler syndrome
4p16
52
Alternative name for Hunter syndrome
Mucopolysaccharidosis type II
53
Inheritance pattern of Hunter syndrome
X-linked recessive
54
Features of Hunter syndrome
Similar to Hurler syndrome Coarse facial features Developmental decline and loss of skills after 1-2 years Death at a young age
55
Alternative name for Sanfilippo syndrome
Mucopolysaccharidosis type III
56
Inheritance pattern of Sanfilippo syndrome
Autosomal recessive
57
Features of Sanfilippo syndrome
Similar to the other mucopolysaccharidoses Coarse facial features Progressive loss of skills after age 1-2 Death at an early age
58
Inheritance pattern of Lesch-Nyhan syndrome
X-linked recessive
59
Site of mutation for Lesch-Nyhan syndrome
Xq26-27
60
Features of Lesch-Nyhan syndrome
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
61
Deficient enzyme in Lesch-Nyhan syndrome
Hypoxanthine-guanine phosphoribosyltransferase
62
Inheritance pattern of Rett syndrome
X-linked dominant (but almost always de novo mutation)
63
Features of Rett syndrome
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
Inheritance pattern of MELAS syndrome
Mitochondrial
65
Full name of MELAS syndrome
Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes
66
Features of MELAS syndrome
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
Inheritance pattern of Leber's hereditary optic neuropathy
Mitochondrial
68
Features of Leber's hereditary optic neuropathy
Acute visual loss in one eye, with visual loss in the other eye weeks to months later, usually in young adulthood
69
Inheritance pattern of chronic progressive external ophthalmoplegia
Mitochondrial
70
Features of chronic progressive external ophthalmoplegia
Gradually worsening inability to move the eyes and eyebrows
71
Inheritance pattern of MERRF syndrome
Mitochondrial
72
Full name of MERRF syndrome
Myoclonic epilepsy with ragged red fibres
73
Inheritance pattern of Kearns-Sayre syndrome
Mitochondrial
74
Features of Kearns-Sayre syndrome
``` Chronic progressive external ophthalmoplegia Retinitis pigmentosa Cerebellar ataxia Proximal muscle weakness Deafness ```
75
Trinucleotide repeat seen in fragile X syndrome
CGG
76
Trinucleotide repeat seen in Friedreich's ataxia
GAA
77
Trinucleotide repeat seen in Huntington's chorea
CAG
78
Trinucleotide repeat seen in myotonic dystrophy 1
CTG
79
Inheritance pattern of Friedreich's ataxia
Autosomal recessive
80
Deficient protein in Friedreich's ataxia
Frataxin
81
Features of Friedreich's ataxia
``` 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
Inheritance pattern of fragile X syndrome
X-linked dominant
83
Male:female ratio of fragile X syndrome
2:1
84
Reason for fewer females being affected by fragile X syndrome
Females have another X chromosome which can compensate to some extent
85
Number of CGG repeats which generally leads to fragile X
>52 - destabilises the area leading to further expansion during gamete production
86
Gene affected in fragile X syndrome
FMR1
87
State of people who carry the increased number of CGG repeats for fragile X syndrome but do not clinically have fragile X syndrome
Premutation carriers
88
Medical complications of male premutation carriers for fragile X
Intention tremor | Ataxia
89
Medical complications for female premutation carriers for fragile X
Premature ovarian failure | Mild cognitive disabilities
90
Physical features of fragile X syndrome
``` Large, protruding ears Long face Hyper flexibility Macro orchidism Hypotonia Cluttered speech ```
91
Behavioural and psychiatric features of fragile X syndrome
Autism in up to 60% ADHD in most males Moderate intellectual disability Social anxiety
92
Inheritance pattern for Huntington's disease
Autosomal dominant
93
Mutation site for Huntington's disease
4p16.3
94
Protein affected in Huntington's disease
Huntingtin
95
Usual age of onset of Huntington's disease
30-50
96
Affected parent associated with increased anticipation in Huntington's disease (due to greater repeat expansion during gamete production)
Father
97
Number of CAG repeats required to present with Huntington's disease
>35
98
Features of Huntington's disease
``` Huntington's chorea Impairment of gross motor skills Difficulty swallowing Worsening cognition and eventually dementia Anxiety Depression Impulsivity ```
99
Inheritance pattern of myotonic dystrophy
Autosomal dominant
100
Features of myotonic dystrophy
``` Muscle weakness Early cataracts Heart disease including arrhythmias and conduction delays Frontal balding Bilateral ptosis ```
101
Diseases caused by a deletion on chromosome 15, differing due to genomic imprinting
Prader Willi syndrome - paternally inherited | Angelman syndrome - maternally inherited
102
Gene and chromosome affected in myotonic dystrophy 1
DMPK gene on chromosome 19
103
Inheritance pattern of Wilson's disease
Autosomal recessive
104
Inheritance pattern of red green colour blindness
X-linked recessive
105
Inheritance pattern of haemophilia
X-linked recessive
106
Inheritance pattern of Duchenne muscular dystrophy
X-linked recessive
107
Inheritance pattern of Marfan's syndrome
Autosomal dominant
108
Inheritance pattern of neurofibromatosis
Autosomal dominant
109
Chromosome affected in neurofibromatosis type I
17
110
Chromosome affected in neurofibromatosis type II
22
111
Features of neurofibromatosis type I
Café-au-lait spots on the skin Axillary freckling Neurofibromas Behavioural difficulties
112
Features of neurofibromatosis type II
Acoustic neuromas leading to tinnitus and hearing loss | Young onset cataracts
113
Inheritance pattern of homocystinuria
Autosomal recessive
114
Laboratory findings for homocystinuria
Increased levels of homocysteine in the urine
115
Features of homocystinuria
``` Downward dislocation of the lens of the eye Short sightedness Intellectual disability Seizures Marfanoid habitus and pectus excavatum ```
116
Features of Marfan syndrome
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
Inheritance pattern of phenylketonuria
Autosomal recessive
118
Protein which has decreased metabolism in phenylketonuria
Phenylalanine
119
Features of untreated PKU
``` Seizures Intellectual disability Musty odour Fair hair and skin compared to family Microcephaly ```
120
Features of Duchenne muscular dystrophy
Proximal muscle weakness starting in early childhood Gower's sign Calf pseudohypertrophy Intellectual impairment in 30%
121
Inheritance pattern of Becker muscular dystrophy
X-linked recessive
122
Features of Becker muscular dystrophy
Symptoms start after age 10 Progressive weakness similar to DMD Intellectual impairment less common than in DMD
123
Inheritance pattern of Coffin-Lowry syndrome
X-linked dominant
124
Features of Coffin-Lowry syndrome
``` Severe intellectual disability Sleep apnoea Drop attacks Flattened nose Downward sloping eyes Short stature ```
125
Inheritance pattern of Niemann-Pick disease
Autosomal recessive
126
Features of Niemann-Pick disease
Hepatosplenomegaly and abdominal distention Ataxia Dysarthria Progressive loss of intellectual abilities and dementia type presentation
127
Gene and chromosome affected in Huntington's disease
HTT gene on chromosome 4
128
Genes affected by tuberous sclerosis
TSC1 | TSC2
129
Genes affected by tuberous sclerosis
TSC1 | TSC2
130
Gene affected in Huntington's disease
HHT/IT15 (alternative names for the same gene)
131
Features of CADASIL
``` Symptoms start aged 35-55 Migraines TIAs and strokes Mood disorders Later in life dementia and pseudobulbar palsy ```
132
Gene and chromosome affected in CADASIL
Notch3 gene on chromosome 19
133
Genetic cause of Cornelia de Lange syndrome
Spontaneous mutation in vast majority of cases | 500 genetic mutations associated
134
Clinical features of Cornelia de Lange syndrome
``` Long and thick eyebrows Short nose Downturned mouth Long, smooth philtrum Intellectual disability Microcephaly Autistic behaviours ```
135
Alternative name for Wilson's disease
Hepatolenticular degeneration
136
Features of Wilson's disease
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
Ages of patients with Wilson's disease presenting with neuropsychiatric symptoms vs. liver symptoms
Patients presenting with liver symptoms present younger
138
Inheritance pattern of CADASIL
Autosomal dominant
139
Features of triple X syndrome
May have no features Usually normal sexual development and fertility Often global developmental delay Tall stature
140
Enzyme affected in PKU
Phenylalanine hydroxylase
141
Features of Kallmann syndrome
Hypogonadotropic hypogonadism - infertility, poorly defined secondary sexual characteristics Anosmia
142
Condition associated with mutations in the Kiss1 gene
Kallmann syndrome
143
Inheritance pattern of Tay-Sachs disease
Autosomal recessive
144
Ethnic group with increased risk of Tay-Sachs disease
Ashkenazi Jews
145
Gene and chromosome affected in Tay-Sachs disease
HEXA gene, chromosome 15
146
Features of infantile Tay-Sachs disease (most common form)
Loss of motor abilities at 3-6 months Seizures Hearing loss Death by age 3-5
147
Disease characterised by idiopathic basal ganglia calcification
Fahr disease
148
Clinical features of Fahr disease
Clumsiness Involuntary movements Gait disturbance Psychosis and cognitive impairment
149
Inheritance pattern of Fahr disease
Autosomal dominant
150
Age Fahr disease typically presents at
40-60
151
Distinction sometimes made between Fahr disease and Fahr syndrome
Fahr disease is the autosomal dominant genetic disease causing basal ganglia calcification Fahr syndrome is basal ganglia calcification due to secondary causes
152
Chromosome affected in myotonic dystrophy
19
153
Inheritance pattern of haemochromatosis
Autosomal recessive
154
Inheritance pattern of Leigh syndrome
Mitochondrial
155
Most common cause of death among patients with Down syndrome
Heart disease
156
Enzyme deficient in Niemann-pick disease
Sphingomyelinase
157
Most common presentation of Klinefelter syndrome
Infertility

Genetics (9 decks)

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