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Malformations 01

Topic: Anatomy

Created on Sunday, February 8 2009 by gliageek

Last modified on Sunday, February 8 2009.


Courtesy of Dr. Mark Cohen

Which of the following gene mutations is most closely associated with this neuronal migration disorder?

 
        A) LIS1
 
        B) POMT1
 
        C) Doublecortin
 
        D) Filamin-1
 
        E) Tuberin
 

 


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This question was created on February 08, 2009 by gliageek.
This question was last modified on February 08, 2009.

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

ANSWERS AND EXPLANATIONS




A) LIS1

This answer is incorrect.


Causes isolated lissencephaly sequence, and is involved in Miller-Dieker lissencephaly  (See References)

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B) POMT1

This answer is correct.


Cobblestone lissencephaly is most often due to mutations involving dystroglycan glycosylation, and may be seen in Walker-Warburg syndrome (pictured here), muscle-eye-brain disease, and fukuyama muscular dystrophy  (See References)

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C) Doublecortin

This answer is incorrect.


Causes x-linked type 1 (non-cobblestone) lissencephaly  (See References)

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D) Filamin-1

This answer is incorrect.


X-linked periventricular heterotopia  (See References)

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E) tuberin

This answer is incorrect.


Along with hamartin, one of the genes involved in tuberous sclerosis  (See References)

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References:

1. Graham, D.I., and Lantos, P.L. (2002). Greenfield's Neuropathology, 7th ed. Arnold Press, New York. (ISBN:0340742313)Advertising:
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anatomy
Malformations 01
Question ID: 020809076
Question written by gliageek. (C) FrontalCortex.com 2006-2009, all rights reserved. Created: 02/08/2009
Modified: 02/08/2009
Estimated Permutations: 120

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