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Genetics Of Complex Disease > Confenital Malformations 1 > Flashcards

Confenital Malformations 1 Flashcards

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Biology 101 flashcards
1
Q

What is holoprocencephaly mainly caused by (eg Cyclopia 1 eye)

A

Chr abnormalities

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2
Q

What are the 5 most common types of malformations

A

Kidney disease
Craniofacial eg cleft palate
Multisystem eg culiopathies
Chd
Ntd

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3
Q

When do these anomalies occur

A

Embryogenesis 8 weeks first of pregnancy

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4
Q

Why

A

It’s when organogenesis is and most susceptible to teratogens (factors)

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5
Q

Why do we use developmental biology

A

Unethical to study embryos

Also genes for development are preserved eg pax6 for eye development

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6
Q

What are the 4 patterns of anomalies

A

Isolated - affecting 1 structure/organ

Syndromes - multi organ with known cause

Sequential - multi structural due to interconnected development

Associations - multiple organs affected no known cause

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7
Q

Give example of an isolated anomaly which is complex genetic polygenic

A

Isolated cleft palate

(Can also be part of a syndrome or with other cleft eg lip cleft)

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8
Q

What is one of the causal genes found and why is it associated with ankyloglossia (tongue tie)

A

Tbx22

High exp in orifacial cavity

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9
Q

Give an example of a syndrome with known gene cause

A

Holt oram syndrome

Defects in upper limbs and heart

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10
Q

What is the gene inherited autosomal dominant

A

Tbx5 (expressed in heart and forelimbs)

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11
Q

Give an example of a sequential anomaly

A

Pierre robin sequence

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12
Q

What is the primary defect causing which other symptoms

A

Micrognathia, deformed growth of lower jaw

This causes tongue displacement so palate can’t open and airway blockage

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13
Q

Is it inherited

A

No, it is many de novo mutations eg sox9

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14
Q

Which inheritance patterns to congenital anomalies take

A

Single gene - eg holt oram

Polygenic - eg cleft palate

Chr abnormalities - digeorge

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15
Q

Whcih anomaly does zika cause

A

Microcephaly

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16
Q

Which chr abnormality is deletion of chr and 22q 11.2

A

Di George

17
Q

What is one of the genes known lost in digeorge causing anomalies

A

Tbx1

18
Q

Has many features like thymus hypoplasia and parathyroid hypoplasia. How is this possible

A

All derive from pharyngeal pouches where tbx1 is highly expressed usually

19
Q

Which other syndrome is caused by a single gene mutation

A

Ulnar mammary syndrome (tbx3)

20
Q

Why are these tbx genes important

A

Tf for development genes

21
Q

Which gene family is known to cause congenital anomalies and how

A

Hox genes

Tf which pattern the body axis
Can deform limb and digit and body axis development if mutated

22
Q

What is the dna bd called

A

Homeobox

23
Q

Is Ntd multi factorial ie both genes and environment

A

Yes

24
Q

What is the neural tube

A

Precursor for brain and spinal cord

In Ntd it doesn’t close properly

25
Q

Give 3 types

A

Anencephaly - no closure in cranial area
Craniorachischisis - no closure of entire neural tube

Spina bifida - open at the lower spine

26
Q

Give some environmental factors for Ntd

A

Maternal diabetes , folate levels , obesity

27
Q

What is the non canonical wnt signalling pathway which is associated with Ntd

A

Planar cell polarity

Gene variation = Ntd

28
Q

What is the planar cell polarity signalling for

A

Convergence extension/ regulating cell polarity (where tissue of embryo is arranged on the body axis)

Disruption = neural tube too wide

29
Q

Is it just a mono gene effect

A

No many genes in pathway act together (see fr)

30
Q

Which vitamin pathway which transports it from mother to embryo is linked to ntd

A

Folate pathway (receptors and transporters mutations found)

31
Q

What treatment can now be given for ntd

A

Folate replacement

32
Q

Give example of movement cilioparhies

A

Sperm tail is a modified cilium (flagella)

If mutations it causes male infertility

Also need movement of liquids eg at the node or mucociliatary escalator = bronchitis

33
Q

How are cilia used for sending

A

Eg photoreceptors with modified cilia. If defects can cause progressive retinitis pigmentosa

34
Q

Why are cilia important in signalling pathways like wnt and shh for patterning

A

Many receptors hide under the cilia

35
Q

Give an example of how signalling disruption causes anomalies through ciliopathy

A

Craniofacial movement of facial features to the midline of face is disrupted by shh signaling being disrupted

36
Q

Give another example of how left right patterning ciliopathies cause congenital defects

A

Sinus invertus where organs are misplaced

Genetics Of Complex Disease (17 decks)

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