5q14.3 Deletion Neurocutaneous Syndrome: Contiguous Gene Syndrome Caused by Simultaneous Deletion of RASA1 and MEF2C: A Progressive Disease

作者：Ilari Rita^*; Agosta Guillermo; Bacino Carlos

来源：American Journal of Medical Genetics, Part A, 2016, 170(3): 688-693.

DOI：10.1002/ajmg.a.37472

• MEF2C gene
• Neurocutaneous syndrome
• RASA1 gene

We report the case of a young girl who was presented with complex clinical symptoms caused by the deletion of contiguous genes: RASA1 and MEF2C, located on chromosome 5q14.3. Specifically, the diagnosis of her skin disorder and vascular malformations involving central nervous system is consistent with a RASopathy. The child's neurological manifestations are observed in most patients suffering from 5q14.3 by deletion or mutation of the MEF2C gene. A review of the literature allowed us to conclude that the contiguous deletion of genes RASA1 and MEF2C fulfills the criteria for the diagnosis of a Neurocutaneous syndrome as proposed by Carr et al. [2011]. We also assessed the penetrance of RASA1 and clinical manifestations of MEF2C according to the type of deletion. This child described presents the complete symptomatology of both deleted genes. We would also like to highlight the progression of the disorder.

• 出版日期2016-3