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ABGC > General genetics / metabolic 2 > Flashcards

General genetics / metabolic 2 Flashcards

1
Q

Long QT syndrome
features
gene(s)
inheritance

A
  • defects in ion channel signaling; leads to syncope, palpitations; onset usually in childhood
  • KCNQ1, KCNH2
  • AD inheritance
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2
Q

Arrhythmogenic right ventricular cardiomyopathy
features
gene(s)
inheritance

A
  • fibrofatty replacement of cardiac cells; leads to syncope, palpitations, sudden death; onset ~40y
  • PKP2; DSG2; DSP
  • AD inheritance
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3
Q

Hypertrophic cardiomyopathy
features
gene(s)
inheritance

A
  • thickening of (often left) ventricle; leads to shortness of breath, dizziness, syncope, palpitations, increased stiffness, sudden death; onset 15-35y
  • MYH7, MYBPC3
  • AD inheritance
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4
Q

Cornelia de Lange syndrome
features
gene(s)
inheritance

A
  • distinctive facial features; growth retardation; hirsuitism; upper limb reduction defects; severe ID
  • NIPBL, SMC1A, SMC3 genes
  • NIPBL/SMC3: AD inheritance; SMC1A: XL inheritance
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5
Q

Cat-eye syndrome
features
gene(s)

A
  • iris coloboma; kidney abnormalities

- 22q tetraploidy

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6
Q

PKU
features
gene(s)
inheritance

A
  • ID develops throughout childhood w/o restricted diet
  • PAH gene
  • AR inheritance
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7
Q

MSUD
features
gene(s)
inheritance

A
  • severe symptoms onset days after birth; diet restriction leads to favorable outcomes
  • BCKDHA, BCKDHB, DBT genes
  • AR inheritance
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8
Q

Wilson disease
features
gene(s)
inheritance

A
  • copper metabolism disorder; hepatic, neurologic, psychiatric features onset age 3-50+
  • ATP7B gene
  • AR inheritance
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9
Q

Menkes syndrome
features
gene(s)
inheritance

A
  • defect in copper transport
  • normal development until age 2-3m –> loss of milestones –> neurologic and hair texture changes –> death by age 3y
  • ATP7A gene
  • XLR inheritance
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10
Q

Methylmalonic acidemia
features
gene(s)
inheritance

A
  • severe symptoms onset neonatally or in infancy
  • MUT, MMAA, MMAB, MCEE, MMADHC genes
  • AR inheritance
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11
Q

Glutaric acidemia
features
gene(s)
inheritence

A
  • severe symptoms onset usually in infancy; macrocephaly
  • GCDH gene
  • AR inheritance
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12
Q

Charcot-Marie-Tooth disease
features
gene(s)
inheritance

A
  • inherited peripheral neuropathies
  • many genes and all inheritance types
  • -PMP22 gene duplication leads to CMT1A which is AD
  • -PMP22 gene deletion leads to HNPP which is AD
  • -GJB1 gene mutation leads to CMT1X which is XL
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13
Q

Huntington’s disease
features
gene(s)
inheritance

A
  • motor deficits; loss of voluntary movement; cognitive challenges; psychiatric symptoms
  • HTT gene repeat expansion
  • AD inheritance
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14
Q

Crouzon syndrome
features
gene(s)
inheritance

A
  • normal intellect and extremeties; craniofacial (proptosis, strabismus, mandibular prognathism)
  • FGFR2 gene
  • AD inheritance
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15
Q

What are the FGFR-related craniosynostosis syndromes?

A
  • Pfeiffer
  • Apert
  • Crouzon
  • Beare-Stevenson
  • FGFR2-related isolated coronal synostosis
  • Jackson-Weiss
  • Crouzon w/acanthosis nigricans
  • Muenke
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16
Q

Saethre-Chotzen
features
gene(s)
inheritance

A
  • coronal synostosis; facial asymmetry; sometimes 2-3 syndactyly
  • TWIST1 gene
  • AD inhertiance
17
Q

22q11.2 deletion
features
gene(s)
inheritance

A
  • CHD; palatal abnormalities; characteristic facies; learning difficulties; immune deficiency
  • contiguous gene deletion at 22q11.2
  • AD inheritance
18
Q

McCune Albright
features
gene(s)
inheritance

A
  • bone, skin (irregular CALMs), endocrine findings; female menstrual bleeding by age 2; gigantism
  • GNAS1 gene gain-of-function mutations
  • mosaic; not inherited
19
Q

Which chromosome abnormality does not have a maternal age effect?

A

Turner syndrome

20
Q

What usually causes 45,X?

A

an error in paternal meiosis

21
Q

What type of metabolic disorders have normal urinalysis?

A

fatty acid oxidation

22
Q

Noonan syndrome
features
gene(s)
inheritance

A
  • characteristic facies; cardiovascular findings; skin findings; DD
  • several genes; half PTPN11
  • AD inheritance
23
Q

Name the 9 RASopathies:

A
  • NF1
  • Cap-AV malformation
  • Costello
  • Legius
  • ALPS
  • cardio-facio-cutaneous
  • Noonan
  • LEOPARD
  • gingival fibromatosis 1
24
Q

Congenital Adrenal Hyperplasia (CAH)
features
gene(s)
inheritance

A
  • 3 types; all with female internal genitalia and precocious puberty / dexamethasone therapy during pregnancy may prevent effects
  • CYP21A2 gene
  • AR inheritance (carrier freq. 1/55)
25
Q

Name 6 syndromes with ambiguous genitalia:

A
  • CAH
  • Camptomelic dysplasia
  • SLOS
  • WAGR
  • Denys-Drash syndrome
  • Frasier syndrome
26
Q

meningocele

A

meninges of spinal cord herniate through an opening

27
Q

myelomeningocele

A

failure of primary neurulation leading to both meninges and spinal cord herniating through vertebral defect
*often associated with hydrocephalus

28
Q

exencephaly

A

skull and scalp are absent

29
Q

encephalocele

A

herniation of cranial contents through skull defect

30
Q

iniencephaly

A

face facing up

ABGC (34 decks)

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