Chromosome 1q21.1 Deletion Syndrome, 200-KB

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Just read that this can cause autism. So they are at least sure about some of the genetics.

What?

Google it. There is a Wikipedia article on it, listing the traits, symptoms, physical features and conditions it can cause, plus plenty of other sources.

It is implicated in autism, schizophrenia, sleep disorder, hypotonia, GERD and other things.

Recognised symptoms up till now are:

• only one set of genes on the two chromosomes function (Haploinsufficiency)
• TAR syndrome, in case of a class II-deletion
• Neurological-psychiatric problems: Autism; Schizophrenia; epilepsy; learning problems; Mental retardation — mild to moderate; Developmental delay — mild to moderate (milestones like sitting, standing and walking come at a later period in childhood); Children show an ataxic gait and fall down a lot
• Dysmorphism: Slightly unusual facial appearance; disturbed growth; skeletal malformations; Small head (microcephaly); Prominent forehead; Bulbous nose; Deep-set eyes; Broad thumbs; Broad toes; Squint; Very flexible joints; Clavicular pseudoarthrosis (the collarbone doesn't develop normally) (Class II-deletion); An extra transverse crease of the fifth finger (Class II-deletion)); Problems with the development of the vagina (Müllerian aplasia)
• Eyes: Cataracts
• Heart abnormalities and cardiovascular anomalies (30% of the cases): Anomalous origin of the coronary artery (Class II-deletion)
• Kidneys: kidney missing or floating kidneys
• Cancer: Neuroblastoma
• Sleep disturbances

Symptoms that are not confirmed:

• Families with children who have 1q21.1 deletion syndrome report reflux (GERD)
• There is recent information in which Noncompaction cardiomyopathy has been seen in combination with a ClassII-deletion.
• During a pregnancy increased nunchal translucency and oligohydramnion were detected.

It is not clear whether the list of symptoms is complete. Very little information is known about the syndrome. The syndrome can have complete different effects on members of the same family.

While 1q21.1 Deletion Syndrome may cause any of the above-listed symptoms, there are numerous other causes to each of the same symptoms. The mere presence of any one of the listed symptoms is not a de facto indication of 1q21.1 Deletion Syndrome.

Thanks Fnord, I had read all that stuff too, just trying to be succinct because it would be mainly the autism link people here would be interested in.

There's meant to be a link between a condition called Nystagmus (which is where the eyes wobble - most of us are labeled with things like ADHD and Dyslexia by teachers instead) and Autism. Nystgamus (not in my case) is sometimes genetic.

And there's a link between 18q-23 syndrome (about 20% have Autism) and Autism.

Nystagmus is something albino people can have too.

Yes. No idea of figures; but apparently, the majority with Albinism also have Nystagmus.

i've done a lot of research on chromosomal microaberrations & their relation to ASDs... if you look deeper into this subject you will find that the vast majority of these disorders cause autism, and that's simply because the vast majority of these disorders cause brain damage, and brain damage (during a specific developmental period, in a specific pattern, combined with environmental and epigenetic influences) causes autism.

there is no "autism gene", per se. there are genetic polymorphisms that can predispose someone to autism, and there are countless disorders of which autism is a symptom. but there is no gene we can point to and say "if you have this you will have autism". we are not even sure of the pathogenesis of autism, ie what changes in brain structure or metabolism cause it.

however. this does not mean that genetics is useless in the treatment of autism. if one is known to have a genetic disorder associated with autism, and there is a treatment which is known to ameliorate the effects of the disorder by intercepting the disordered biochemical processes, then early treatment could prevent the development of autism. of course, with our current understanding of genetics & pharmacology this is only really possible for single-gene (not chromosomal) disorders, and a small percentage of these, at that.

with new advances in the medical sciences we should soon be able to identify biomarkers for autism which could determine an individual's responsiveness to certain drugs or therapies.

but the search for the 'autism gene' is misguided.