التفاصيل البيبلوغرافية
| العنوان: |
Segmental overgrowth, lipomatosis, arteriovenous malformation and epidermal nevus (SOLAMEN) syndrome is related to mosaic PTEN nullizygosity. |
| المؤلفون: |
Caux, Frédéric, Plauchu, Henri, Chibon, Frédéric, Faivre, Laurence, Fain, Olivier, Vabres, Pierre, Bonnet, Françoise, Selma, Zied Ben, Laroche, Liliane, Gérard, Marion, Longy, Michel |
| المصدر: |
European Journal of Human Genetics; Jul2007, Vol. 15 Issue 7, p767-773, 7p, 2 Black and White Photographs, 2 Diagrams, 1 Chart, 1 Graph |
| مصطلحات موضوعية: |
PROTEUS syndrome, MUSCULOSKELETAL system abnormalities, TISSUES, PHENOTYPES, ARTERIOVENOUS anastomosis, GENETICS |
| مستخلص: |
We describe two patients from distinct Cowden disease families with specific germline PTEN mutations whose disease differs from the usual appearance of Cowden disease. Their phenotype associates classical manifestations of Cowden disease and congenital dysmorphisms including segmental overgrowth, arteriovenous and lymphatic vascular malformations, lipomatosis and linear epidermal nevus reminiscent of the diagnosis of Proteus syndrome. We provide evidence in one of the two patients of a secondary molecular event: a loss of the PTEN wild-type allele, restricted to the atypical lesions that may explain an overgrowth of the affected tissues and the atypical phenotype. These data provide a new demonstration of the Happle hypothesis to explain some segmental exacerbation of autosomal-dominant disorders. They also show that a bi-allelic inactivation of PTEN can lead to developmental anomalies instead of malignant transformation, thus raising the question of the limitations of the tumor suppressive function in this gene. Finally, we suggest using the term ‘SOLAMEN syndrome’ (Segmental Overgrowth, Lipomatosis, Arteriovenous Malformation and Epidermal Nevus) in these peculiar situations to help the difficult distinction between the phenotype of our patients and Proteus syndrome. European Journal of Human Genetics (2007) 15, 767–773; doi:10.1038/sj.ejhg.5201823; published online 28 March 2007 [ABSTRACT FROM AUTHOR] |
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| قاعدة البيانات: |
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