Paula and Bobby
Parents of Lillie
Agyria/pachygyria - Mutations in Tuba1a
What is Agyria/pachygyria - Mutations in Tuba1a?
Agyria/pachygyria - Mutations in Tuba1a is a rare disease.
There are currently no additional known synonyms for this rare genetic disease.
Keays et al., (2007) reported mutationsin alpha-tubulin causing lissencephaly and their 2 patients and 6 others were studied further by Poirier et al., (2007). Clinically (some were fetuses) there was microcephaly, severe retardation, agyria or pachygyria or both, agenesis or an abnormally shaped corpus callosum. cerebellar vermis, hippocampus and brain stem hypoplasia and seizures.
A neuropathological examination of 4 fetuses showed a distinct pattern with 5 brain structures (neocortex, hippocampus, corpus callosum, cerebellum, brainstem) being involved. At microscopic level, migrational abnormalities occurred as suggested by abnormal lamination in the cortex and hippocampus and heterotopic neurons in cortex, cerebellum and brainstem. Five patients were reported by Morris-Rosendahl et al., (2008) and the phenotype refined. Four of the 5 had congenital microcephaly, all had dysgenesis of the corpus callosum, and cerebellar hypoplasia (mostly of the vermis). and cortical malformations. These authors estimate that TUBA1A mutations are present in 4% of classical lissencephaly. In another study, Kumar et al., (2010), mutations were identified in about 1% of those with classical lissencephaly and in about 30% in those lissencephaly and cerebellar hypoplasia. A mutation was also found in one child with cerebellar hypoplasia and agenesis of the corpus callosum, without lissencephaly.
* This information is courtesy of the L M D.
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What gene changes cause Agyria/pachygyria - Mutations in Tuba1a?
The syndrome is inherited in the following inheritance pattern/s:
Autosomal Recessive - Autosomal recessive inheritance means an affected individual receives one copy of a mutated gene from each of their parents, giving them two copies of a mutated gene. Parents, who carry only one copy of the gene mutation will not generally show any symptoms but have a 25% chance of passing the copies of the gene mutations onto each of their children.
In some cases, a genetic syndrome may be the result of a de-novo mutation and the first case in a family. In this case, this is a new gene mutation that occurs during the reproductive process.
The syndrome can be caused by mutations in the following gene/s location/s:
What are the main symptoms of Agyria/pachygyria - Mutations in Tuba1a?
The typical symptoms of the syndrome are:
How does someone get tested for Agyria/pachygyria - Mutations in Tuba1a?
The initial testing for Agyria/pachygyria - Mutations in Tuba1a can begin with facial genetic analysis screening, through the FDNA Telehealth telegenetics platform, which can identify the key markers of the syndrome and outline the type of genetic testing needed. A consultation with a genetic counselor and then a geneticist will follow.
Based on this clinical consultation with a geneticist, the different options for genetic testing will be shared and consent will be sought for further testing.
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