Encephalocraniocutaneous lipomatosis with a mutation in the NF1 gene.
作者： E Legius , R Wu , M Eyssen , P Marynen , J P Fryns
DOI: 10.1136/JMG.32.4.316
关键词: Lipomatosis 、 Medicine 、 Mutation (genetic algorithm) 、 Neurofibromatosis 、 Endocrinology 、 Pathology 、 Encephalocraniocutaneous Lipomatosis 、 Proteus syndrome 、 Nonsense mutation 、 Gene 、 Internal medicine 、 Exon
摘要: Encephalocraniocutaneous lipomatosis (ECCL) is a congenital hamartomatous disorder characterised by unilateral skin lesions, lipomas, and ipsilateral ophthamological cerebral malformations. The thought to represent localised form of Proteus syndrome. In this report, child described with ECCL de novo nonsense mutation in exon 29 (S1745X) the neurofibromatosis type 1 (NF1) gene. Although it possible that both NF1 occur coincidentally patient, we favour hypothesis exceptional cases gene might give rise severe malformations such as ECCL. Possible pathogenetic mechanisms for these are discussed.
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