TY - JOUR
T1 - 5q14.3 neurocutaneous syndrome
T2 - A novel continguous gene syndrome caused by simultaneous deletion of RASA1 and MEF2C
AU - Carr, Christopher W.
AU - Zimmerman, Holly H.
AU - Martin, Christa Lese
AU - Vikkula, Miikka
AU - Byrd, Adam C.
AU - Abdul-Rahman, Omar A.
PY - 2011/7
Y1 - 2011/7
N2 - 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.
AB - 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.
KW - CM-AVM
KW - MEF2C
KW - Mental retardation
KW - Neurocutaneous syndromes
KW - RASA
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U2 - 10.1002/ajmg.a.34059
DO - 10.1002/ajmg.a.34059
M3 - Article
C2 - 21626678
AN - SCOPUS:79959521940
SN - 1552-4825
VL - 155
SP - 1640
EP - 1645
JO - American Journal of Medical Genetics, Part A
JF - American Journal of Medical Genetics, Part A
IS - 7
ER -