The genetics behind the neurodevelopmental disorder Microcephaly
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Choose a defect from the following list that you are unfamiliar with:
1. Anecephaly
2. Chiari malformation
3. Hydrocephalus
4. Microcephaly
5. AVMs
Find at least 2 peer reviewed articles that identify either genetic or environmental factors that can lead to that anomaly. Summarize each article and discuss either how the environmental factors could be changed to improve outcomes for the child, or discuss the genetics of the disorder by identifying whether it is a recessive or dominant condition and how it is passed from parent to child.
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Solution Summary
The material above contain articles which investigate the genetic basis of the neurodevelopmental disorder Microcephaly. The articles pinpoint the locus and the genes whose mutation results in the above disorder. There are also several references mentioned here which investigate the same.
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I have summarized the two articles that discuss the genetics of Microcephaly. I have also attached the PDFs of these two articles. Please read these articles and go through the references mentioned below.
Microcephaly:
Microcephaly is a neurodevelopmental disorder in which the head circumference (HC) grows 2-3 standard deviation below a normal person's HC. The condition may be from birth or it may be apparent after 2-3 yrs of birth. Various factors can cause this down-growth of the HC, one of them being chromosomal abnormality. This is a recessive disorder and arises from homozygous mutation of the Microcephalin gene.
ARTICLES:
Following articles discuss genetics behind the disorder.
1. Jackson, A. P., Eastwood, H., Bell, S. M., Adu, J., Toomes, C., Carr, I. M., ... & Woods, C. G. (2002). Identification of microcephalin, a protein implicated in determining the size of the human brain. The American Journal of Human Genetics, 71(1), 136-142.
2. Woods, C. G., Bond, J., & Enard, W. (2005). Autosomal recessive primary microcephaly (MCPH): a review of clinical, molecular, and evolutionary findings. The American Journal of Human Genetics, 76(5), 717-728.
1. Identification of microcephalin, a protein implicated in determining the size of the human brain. (Jackson, A. P., Eastwood, H., Bell, S. M., Adu, J., Toomes, C., Carr, I. M., ... & Woods, C. G. (2002).
Microcephaly is a ...
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