5q14.3 neurocutaneous syndrome: A novel continguous gene syndrome caused by simultaneous deletion of RASA1 and MEF2C

Christopher W. Carr, Holly H. Zimmerman, Christa Lese Martin, Miikka Vikkula, Adam C. Byrd, Omar A. Abdul-Rahman

Research output: Contribution to journalArticle

24 Scopus citations


Haploinsufficiency of RASA1, located on chromosome 5q14.3, has been identified as the etiology underlying the disorder capillary malformation-arteriovenous malformation (CM-AVM). Recently, haploinsufficiency of MEF2C, located 1.33Mb distal to RASA1 on chromosome 5q14.3, has been implicated as the genetic etiology underlying a complex array of deficits including mental retardation, hypotonia, absent speech, seizures, and brain anomalies. Here we report a patient who is haploinsufficient in both RASA1 and MEF2C who presents with dermatologic and neurologic abnormalities that constitute a 5q14.3 neurocutaneous syndrome. This finding highlights the need to assess for CM-AVM in patients with neurologic features consistent with MEF2C haploinsufficiency, and vice versa.

Original languageEnglish (US)
Pages (from-to)1640-1645
Number of pages6
JournalAmerican Journal of Medical Genetics, Part A
Issue number7
StatePublished - Jul 1 2011



  • CM-AVM
  • MEF2C
  • Mental retardation
  • Neurocutaneous syndromes
  • RASA

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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