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Copy Number Variations and Genes?

OkRad

μῆνιν ἄειδε θεὰ Πηληϊάδεω Ἀχιλῆος οὐλομένην
V.I.P Member
I am wondering if anyone else has CNV from gene testing?
I had it done at a big hospital.
Has anyone else had this? Mine spans 8 genes and one of the genes codes for neurons and paring of neurons which they said is implicated in autism.
Anyone else ?
I do not buy the genetic fault thing. It is perhaps environmental trigger. It's a cool gene, one that probably would have been awesome if something had not hit it. If we are exposed to 10,000 chemicals a years, it is funny -hilarious- to blame genes. Haha. PAH.
 
Not, I've not had any genetic testing of any kind that I know of. There have been many studies though, understanding of the ramifications of mapping the entire human genome is underway. And will be for some time. Here's what I found recently that relates to this:

CNV Studies in ASD

Earlier studies mainly with simplex families in ASD showed an increased frequency of CNVs. But the evidence from these studies can only characterize some specific CNVs in ASD families with a broad variety of clinical features [1]. Duplications and deletions that affect lots of loci are associated with ASD [15]. Balanced genomic changes, such as translocations and inversions, also contribute to ASD.....

CNVs with duplication in 15q13, deletions in 16p11.2 [11, 27, 47–49], 7q11.23 with Williams Syndrome locus, 22q11.2 with DiGeorge Syndrome locus, and 1q21.1 and 15q11-13 with Prader Willi-Angelman Syndrome locus [21, 49] are reported to date. Inherited duplications in the 15q11-q13 region have been reported to occur in ~1% to 3% of autism cases [40]. According to the genome-wide studies, copy number changes cause alterations in expression levels of genes within CNVs [34]. Thus this structural variation may affect gene expression directly by disrupting genes and altering gene dosage or indirectly through a position effect or unmasking of recessive mutations or functional SNPs on the remaining allele. Unlikely, variants occurring in intronic or intergenic regions may have little or no effects on gene expression [28]. Specific chromosomal regions with CNVs are related with ASD except chromosomes 12, 19, 20, and 21. Some of these regions (such as chromosomes 1, 15, 16, and 22) are responsible for both ASD and schizophrenia [31]. Besides, multiple large CNV studies have been reported using different methodologies to examine different cohorts and the obtained data have great impact in the field of autism research to date [11, 20, 21, 26, 27, 47, 50–52]. According to large CNV studies, anyone can conclude that several rare de novo and inherited CNVs contribute to autism susceptibility. Additionally de novo CNVs are higher in simplex families than multiplex families (de novo CNVs are 3–5 times higher in ASD families than in controls)....https://www.hindawi.com/archive/2014/713109/


Fact is CNV's or copy-number variants are present in the entire population. Not much is known at this point other than identification of CNV's as they relate to autism and other gene expression. The more that is known and understood in genome research the better able scientists will be in comprehending how it all comes together. There simply is not enough conclusive information yet, especially when it comes to any sort of diagnosis. What turns a gene on or off or causes it to mutate is not yet fully understood.
 
Yes, I have a CNV which I passed onto my son who has been diagnosed with autism (without any language delay/impairment or cognitive deficits.) This particular CNV is almost always (or always) inherited from one of the parents (i.e. it is not de novo) and is actually fairly common in the general population (about 1 in 130 according to the latest research I've seen.) Right now there is not a clear understanding of its significance, with opinions varying from normal variant to a risk factor for a variety of psychiatric disorders (e.g. autism, ADHD, intellectual disability, etc.) Neither I, my parents, or any of my siblings have any history of developmental or psychiatric disorders, so I'm leaning towards "normal variant" or maybe a slight risk factor. My wife didn't test positive for any suspect CNVs, but she has some issues. For example, both of us are fairly confident that she has ADHD, though she hasn't been formally diagnosed. Quite a few of mine son's challenges actually mirror pretty closely those of my wife, though they manifest slightly differently due to age.
 

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