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Genetics of KS / CHH update.

July 12, 2015

Dr Margaret Lippincott is one of the lead clinicians at the KS specialist clinic in Boston. She is happy to hear from patients if they have any concerns or questions. She attended the patient meeting we had earlier this year in Boston and is keen to be involved with patients and help as much as possible.

I know some people are keen to know if there any results of DNA studies from blood or saliva samples that have been used in studies. The lab in Boston has a database of samples taken from patients from all over the world.

If you have had a sample taken for DNA testing it is possible that the lab in Boston will have results on you, regardless of where the sample was taken.

They are not legally allowed to share results directly with patients but are able to send results to your local endocrinologist. People can contact Dr Lippincott directly at Boston with brief details of where & when the sample was taken and with details of your local doctor. If they have any results they can pass them on to your doctor.

Normally with DNA samples the labs store the samples and re-test them once new genes have been identified so results can be updated from time to time.

Her e-mail address is:

Gene defects known to cause KS / HH - Prof. N.Pitteloud. CHUV. 2011

The percentage of cases with an unknown origin is currently between 50 and 60%.

The KAL-1 gene is the most widely studied gene and the first one discovered. It causes the form of KS known as x-linked KS which is sometimes associated with the additional symptoms of mirror movements, absence of a kidney or fused fingers in addition to anosmia. It accounts for only between 5 and 6% of cases.

KS / CHH can be due to a mutation in the KAL-gene alone or quite often it is caused by two or more gene mutations working together. This means predicting the chances of passing the condition on very difficult.

At present there is no benefit in knowing which gene defects are involved in an individual case with regards to treatment options but in future there may be an option of directing specific forms of treatment according to which gene defect(s) are present.

Link to Gene Reviews article on KS / CHH

One Comment
  1. Reblogged this on Nicky's World.

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