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5q14.3 neurocutaneous syndrome: A novel continguous gene syndrome caused by simultaneous deletion of RASA1 and MEF2C
Author(s) -
Carr Christopher W.,
Zimmerman Holly H.,
Martin Christa Lese,
Vikkula Miikka,
Byrd Adam C.,
AbdulRahman Omar A.
Publication year - 2011
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.34059
Subject(s) - haploinsufficiency , mef2c , etiology , microdeletion syndrome , medicine , genetics , chromosome , neuroscience , biology , gene , phenotype , pathology , gene expression
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 1.33 Mb 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. © 2011 Wiley‐Liss, Inc.