Kleefstra Syndrome - Meetup In October in 2012

What is Kleefstra Syndrome

Last Updated on Thursday, 31 May 2012 12:44

Kleefstra syndrome is a rare genetic condition in which a tiny piece is missing from near the end of one of the body’s 46 chromosomes. The missing piece includes a gene called EHMT1. Its absence is believed to cause the major symptoms of the syndrome. The syndrome was officially recognised as Kleefstra syndrome in April 2010 but you may still see it referred to as any of the following:

• 9q34.3 deletion

This was the most common name before Kleefstra Syndrome was recognised, and in fact our original website address was www.9q34.org In April 2010 OMIMrecognised the term "Kleefstra syndrome" and in May 2010 our website adopted the new name.  

• 9qSTDS

Short for 9q Subtelomere Deletion Syndrome - It was suggested by a specialist in the field that this become the uniformed name. Some parents disliked this however, due to other meanings of the term STD.

• CHOMS

Short for Craniofacial characteristics, Hypotonia, Obesity, Microcephaly, Speech problems.  It was suggested to be the uniformed name by one of the specialists looking at the condition.

Other variations are:    

• 9q34.3 microdeletion

• 9q34.3 terminal deletion syndrome
• 
  

Diagnosis

What are the first signs that a baby or child has the disorder?

The first signs can be incredibly diverse. Out of a group of 14 babies, five seemed fine at birth but concern grew later about their development: they failed to track visually, to watch their mother while feeding or their rate of development was slow. One baby seemed to progress as expected until developing a type of seizure at three months; another repeatedly failed hearing tests.

In nine babies there were signs immediately after birth of something wrong, varying from a weak cry, feeding difficulties and unusual facial features (twice thought to suggest Down’s syndrome) to a small head, hernias in the groin and at the navel, a floppy larynx, heart problems, cataracts and seizures. Although a low muscle tone (floppiness) is usually characteristic of newborn babies with Kleefstra syndrome, this may not be obvious: in four babies, no floppiness was observed.

Diagnosis

Last Updated on Tuesday, 01 May 2012 12:56

What are the first signs that a baby or child has the disorder?

The first signs can be incredibly diverse. Out of a group of 14 babies, five seemed fine at birth but concern grew later about their development: they failed to track visually, to watch their mother while feeding or their rate of development was slow. One baby seemed to progress as expected until developing a type of seizure at three months; another repeatedly failed hearing tests.

In nine babies there were signs immediately after birth of something wrong, varying from a weak cry, feeding difficulties and unusual facial features (twice thought to suggest Down’s syndrome) to a small head, hernias in the groin and at the navel, a floppy larynx, heart problems, cataracts and seizures. Although a low muscle tone (floppiness) is usually characteristic of newborn babies with Kleefstra syndrome, this may not be obvious: in four babies, no floppiness was observed.

Prenatal Whole Genome Sequencing: Just Because We Can, Should We?

Prenatal Whole Genome Sequencing: Just Because We Can, Should We?

ScienceDaily (Aug. 10, 2012) — With whole genome sequencing quickly becoming more affordable and accessible, we need to pay more attention to the massive amount of information it will deliver to parents -- and the fact that we don't yet understand what most of it means, concludes an article in the Hastings Center Report. The authors are current or former scholars at the National Institutes of Health's Department of Bioethics.

Most analyses of the ethical issues raised by whole genome sequencing have been "futuristic forecasting," but the authors conclude that "this is problematic given the speed with which whole genome sequencing is likely to be incorporated into clinical care," as its price falls to under $1,000.

Prenatal whole genome sequencing differs from current prenatal genetic testing practice in ethically relevant ways. Most notably, whole genome sequencing would radically increase the volume and scope of available prenatal genetic data. In contrast with current tests, which identify serious genetic conditions in fetuses at high risk of them, the new tests would likely be used by many more expectant parents and reveal a wide spectrum of genetic traits, including disease susceptibility.

Some of the ethical challenges posed by prenatal whole genome sequencing arise from the uncertainty of what the information means. The function of more than 90 percent of genes in the human genome is unknown and as a result, the article says, "much of the data generated from whole genome sequencing over the next few years (or even decades) will be of questionable utility."

After analyzing the kind of information that whole genome prenatal testing will yield, the authors conclude that most of it would probably not be as helpful as information uncovered by the current categories of prenatal tests. They cited specific areas of concern.

First of all, the quality and quantity of information may augment parents' anxiety. "To the extent that parents now think of their child as a 'clean slate' during pregnancy, the prenatal image of a normal, healthy baby will be dramatically altered by this technology," the authors write. The anxiety over the results and changing views of what is "normal" could lead to an increase in pregnancy terminations.
Apart from reproductive decisions, the authors also foresee whole genome prenatal testing having a negative impact on child rearing. For example, if parents were able to get genetic information suggesting that their child's predicted IQ may be low, they might not strongly encourage and support the child's efforts in school.

Finally, the new technology could increase the tension between the interests of parents and children. Although parents have a strong interest in getting information that informs their reproductive choices, children have a competing interest in not knowing certain kinds of information about themselves -- information that could limit their autonomy as they grow into adulthood.

Given the potential harms from prenatal whole genome sequencing, the authors make four preliminary recommendations......

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