content:aicardi_syndrome

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content:aicardi_syndrome [2020/02/13 13:28]
icna [Genetics]
content:aicardi_syndrome [2020/02/23 00:51] (current)
icna
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 ====== Aicardi syndrome ====== ====== Aicardi syndrome ======
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 A rare neurodevelopmental disorder characterized by the classic triad of agenesis of the corpus callosum (total or partial), central chorioretinal lacunae and infantile spasms that affects almost exclusively females & rarely in 47 XXY males. However Aicardi syndrome is now recognized as a more complex, pleiotropic disorder with an expanded spectrum of phenotypical features. A rare neurodevelopmental disorder characterized by the classic triad of agenesis of the corpus callosum (total or partial), central chorioretinal lacunae and infantile spasms that affects almost exclusively females & rarely in 47 XXY males. However Aicardi syndrome is now recognized as a more complex, pleiotropic disorder with an expanded spectrum of phenotypical features.
 ===== Clinical features ===== ===== Clinical features =====
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   * The presence of two classical features in addition to at least two major or supporting features is strongly suggestive of a diagnosis of Aicardi syndrome   * The presence of two classical features in addition to at least two major or supporting features is strongly suggestive of a diagnosis of Aicardi syndrome
 ==== Genetics ==== ==== Genetics ====
-Nearly all reported cases of Aicardi syndrome are sporadic and in females. The disorder is believed to result from new gene mutationsAicardi syndrome is classified as an X-linked dominant condition[{{ :​content:​xlinkdominant.jpeg?​300|Credit:​U.S National Library of Medicine}}. ​In 2015 mutation in gene [[https://​www.genecards.org/​cgi-bin/​carddisp.pl?​gene=TEAD1|TEAD1]] was found to be associated with Aicardi syndrome[(:​cite:>​{{pubmed>​long:​26091538}})]. ​This was the first genetic mutation associated with Aicardi syndrome to be reported. This study also found that TEAD1 mutations ​may be present in males.+  * Nearly all reported cases of Aicardi syndrome are sporadic and in females ​and believed to result from new gene mutations 
 +  * Aicardi syndrome is classified as an X-linked dominant condition[{{ :​content:​xlinkdominant.jpeg?​300|Credit:​U.S National Library of Medicine}}]. 
 +  * mutation in gene [[https://​www.genecards.org/​cgi-bin/​carddisp.pl?​gene=TEAD1|TEAD1]] was the first genetic mutation reported ​to be associated with Aicardi syndrome[(:​cite:​26091538>​{{pubmed>​long:​26091538}})]. TEAD1 mutations ​has also been shown to be present in males[(:​cite:​26091538>​{{pubmed>​long:​26091538}})].
  
 === Neuroimaging === === Neuroimaging ===
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