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

23 Citations (Scopus)

Abstract

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
Volume155
Issue number7
DOIs
StatePublished - Jul 1 2011

Fingerprint

Neurocutaneous Syndromes
Haploinsufficiency
Chromosomes
Genes
Nervous System Malformations
Muscle Hypotonia
Intellectual Disability
Nervous System
Seizures
Brain
Capillary Malformation-Arteriovenous Malformation

Keywords

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

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

Cite this

5q14.3 neurocutaneous syndrome : A novel continguous gene syndrome caused by simultaneous deletion of RASA1 and MEF2C. / Carr, Christopher W.; Zimmerman, Holly H; Martin, Christa Lese; Vikkula, Miikka; Byrd, Adam C.; Abdul-Rahman, Omar A.

In: American Journal of Medical Genetics, Part A, Vol. 155, No. 7, 01.07.2011, p. 1640-1645.

Research output: Contribution to journalArticle

Carr, Christopher W. ; Zimmerman, Holly H ; Martin, Christa Lese ; Vikkula, Miikka ; Byrd, Adam C. ; Abdul-Rahman, Omar A. / 5q14.3 neurocutaneous syndrome : A novel continguous gene syndrome caused by simultaneous deletion of RASA1 and MEF2C. In: American Journal of Medical Genetics, Part A. 2011 ; Vol. 155, No. 7. pp. 1640-1645.
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