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What gene is associated with Cobblestone lissencephaly?

Updated: 8/19/2019
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13y ago

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Cobblestone lissencephaly is associated with abnormalities in fukutin, a gene responsible for Fukuyama muscular dystrophy , a syndrome consisting of muscle weakness and cobblestone lissencephaly.

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13y ago
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Q: What gene is associated with Cobblestone lissencephaly?
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Related questions

What is Type II lissencephaly?

Type II, or "cobblestone" lissencephaly, is characterized by a bumpy appearance of the abnormal surface of the brain. The cortex in Type II lissencephaly is completely abnormal and there are no distinguishable layers


What is type I lissencephaly?

Type I, also known as classical lissencephaly, is distinguished by the smooth surface of the cerebral cortex and an abnormal four-layered cortex. Classical lissencephaly can be associated with abnormalities of the rest of the brain


What genes have been implicated in causing lissencephaly?

The first gene causing lissencephaly, LIS1, was identified in patients with Miller-Dieker syndrome, a genetic syndrome caused by deletions of chromosome 17 that is a combination of lissencephaly and other facial deformities


How common is lissencephaly?

Type I lissencephaly is more common and comprises 43% of lissencephaly syndromes in some studies. Type II lissencephaly accounted for 14% of lissencephalies


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What are the characteristics of lissencephaly?

In lissencephaly or agyria, neuronal migration fails globally, causing the brain to appear completely smooth and have abnormal layering in the cortex.


What gene is associated with Periventricular heterotopia?

Periventricular heterotopia is associated with abnormalities of the filamin1 gene on the X chromosome.


What are the special concerns for children with lissencephaly?

Due to developmental disability, children with lissencephaly who survive beyond the age of two may benefit from special education programs


What genes are responsible for neuronal migration disorders?

The most well characterized genes include DCX on the X chromosome, responsible for double cortex syndrome, and LIS1 on chromosome 17, the first gene identified for lissencephaly.


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What type of brain malformation is lissencephaly?

Lissencephaly is part of a spectrum of brain malformations, which are referred to as the agyriapachygyria-band spectrum and are caused by abnormalities in neuronal migration, a critical process in brain development


When was lissencephaly first described?

Lissencephaly was first described by Owen in 1868 and means "smooth brain," which describes the gross appearance of the brain. Microscopically, the brain appears abnormally thick and disorganized