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Genetic reserach
The exact cause of CMTC remains unknown, although experts are of the opinion that an underlying genetic defect must be responsible. Until recently it was not possible to investigate this without some prior evidence of the condition. To be able to localise a single genetic variation in human DNA is comparable to looking for the proverbial needle in a haystack.
The exact cause of CMTC remains unknown, although experts are of the opinion that an underlying genetic defect must be responsible. Until recently it was not possible to investigate this without some prior evidence of the condition. To be able to localise a single genetic variation in human DNA is comparable to looking for the proverbial needle in a haystack.
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Recently the situation has changed however. New techniques now do allow us to find that needle through being able to analyse the complete human DNA structure. In an international team together with medical researchers from Canada, dermatologists from Rotterdam and Maastricht (professor Oranje and professor van Steensel) are seeking to uncover the root casue of CMTC. Our organisation has been called upon to assist in this.
The researchers need DNA from people that have classic CMTC symptoms, specifically those with the typical skin condition either with or without the absence of cutaneous
The researchers need DNA from people that have classic CMTC symptoms, specifically those with the typical skin condition either with or without the absence of cutaneous
and/or sub-cutaneous connective tissue and with or without signs of impeded growth for the part of the body on which the skin feature is present. These typical symptoms are: blue or purple marble pattern, present at birth and more clearly present on exposure to cold or when the patient becomes emotional.
Please register your interest to participate in this study by sending us an e-mail, following which initial checks will need to be carried out as to whether the patient does indeed have the classic CMTC condition and whether the patient/parents is/are indeed prepared to take part in the research.
During the international study, details of the research progress will be published on this web-site.
Please register your interest to participate in this study by sending us an e-mail, following which initial checks will need to be carried out as to whether the patient does indeed have the classic CMTC condition and whether the patient/parents is/are indeed prepared to take part in the research.
During the international study, details of the research progress will be published on this web-site.
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