title: 5q14.3 neurocutaneous syndrome: a novel continguous gene syndrome caused by simultaneous deletion of RASA1 and MEF2C.
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 1.33 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.
authors.affiliation: Department of Medicine, Methodist University Hospital/University of Tennessee Health Science Center, Memphis, 38104, USA. chirswearr@hotmail.com
authors.forename: Christopher W
authors.initials: CW
authors.lastname: Carr
authors.forename: Holly H
authors.initials: HH
authors.lastname: Zimmerman
authors.forename: Christa Lese
authors.initials: CL
authors.lastname: Martin
authors.forename: Miikka
authors.initials: M
authors.lastname: Vikkula
authors.forename: Adam C
authors.initials: AC
authors.lastname: Byrd
authors.forename: Omar A
authors.initials: OA
authors.lastname: Abdul-Rahman
mesh_terms: D000293:Adolescent; D001921:Brain / Q000473:pathology; D002648:Child; D002675:Child, Preschool; D002871:Chromosome Banding; D002895:Chromosomes, Human, Pair 5 / Q000235:genetics*; D055028:Comparative Genomic Hybridization; D017353:Gene Deletion; D023061:Gene Order; D057895:Haploinsufficiency; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D026161:MADS Domain Proteins / Q000235:genetics*; D064326:MEF2 Transcription Factors; D008279:Magnetic Resonance Imaging; D008297:Male; D018006:Myogenic Regulatory Factors / Q000235:genetics*; D020752:Neurocutaneous Syndromes / Q000175:diagnosis / Q000235:genetics*; D010641:Phenotype; D012867:Skin / Q000473:pathology; D020729:p120 GTPase Activating Protein / Q000235:genetics*
chemical_list: D026161:MADS Domain Proteins; D064326:MEF2 Transcription Factors; C578040:MEF2C protein, human; D018006:Myogenic Regulatory Factors; C557248:RASA1 protein, human; D020729:p120 GTPase Activating Protein