Citations for
1DEL5Q14, MEF2C
The MEF2C-Related and 5q14.3q15 Microdeletion Syndrome.
Zweier M, Rauch A.
Mol Syndromol 2(3-5):164-170. Epub 2012 Apr 16. 2012
2DEL5Q14, MEF2C
Interstitial deletion 5q14.3q21.3 with MEF2C haploinsufficiency and mild phenotype: When more is less.
Tonk V, Kyhm JH, Gibson CE, Wilson GN.
Am J Med Genet A 155(6):1437-41. doi: 10.1002/ajmg.a.34012. Epub 2011 May 12. 2011
3DEL5Q14, MEF2C
De novo 5q14.3 translocation 121.5-kb upstream of MEF2C in a patient with severe intellectual disability and early-onset epileptic encephalopathy.
Saitsu H, Igarashi N, Kato M, Okada I, Kosho T, Shimokawa O, Sasaki Y, Nishiyama K, Tsurusaki Y, Doi H, Miyake N, Harada N, Hayasaka K, Matasumoto N.
Am J Med Genet A 155(11):2879-84. doi: 10.1002/ajmg.a.34289. Epub 2011 Oct 11. 2011
4CPLM, DEL5Q14, MEF2C, RASA1
5q14.3 neurocutaneous syndrome: a novel contiguous gene syndrome caused by simultaneous deletion of RASA1 and MEF2C.
Carr CW, Zimmerman HH, Martin CL, Vikkula M, Byrd AC, Abdul-Rahman OA.
Am J Med Genet A 155A(7):1640-5. doi: 10.1002/ajmg.a.34059. Epub 2011 May 27. 2011
5DEL5Q14, MEF2C
MEF2C haploinsufficiency caused by either microdeletion of the 5q14.3 region or mutation is responsible for severe mental retardation with stereotypic movements, epilepsy and/or cerebral malformations.
Le Meur N, Holder-Espinasse M, Jaillard S, Goldenberg A, Joriot S, Amati-Bonneau P, Guichet A, Barth M, Charollais A, Journel H, Auvin S, Boucher C, Kerckaert JP, David V, Manouvrier-Hanu S, Saugier-Veber P, Frébourg T, Dubourg C, Andrieux J, Bonneau D.
J Med Genet 47(1):22-9. Epub 2009 Jul 9. 2010
6DEL5Q14, MEF2C
Refining the phenotype associated with MEF2C haploinsufficiency.
Novara F, Beri S, Giorda R, Ortibus E, Nageshappa S, Darra F, Bernardina BD, Zuffardi O, Van Esch H.
Clin Genet lin Genet. 2010 Apr 14. [Epub ahead of print]PMID: 20412115 2010
7DEL5Q14, MEF2C
Severe mental retardation, seizures, and hypotonia due to deletions of MEF2C.
Nowakowska BA, Obersztyn E, Szymańska K, Bekiesińska-Figatowska M, Xia Z, Ricks CB, Bocian E, Stockton DW, Szczałuba K, Nawara M, Patel A, Scott DA, Cheung SW, Bohan TP, Stankiewicz P.
Am J Med Genet B Neuropsychiatr Genet m J Med Genet B Neuropsychiatr Genet. 2010 Mar 23. [Epub ahead of print]PMID: 20333642 2010
8DEL5Q14, MEF2C
Mutations in MEF2C from the 5q14.3q15 microdeletion syndrome region are a frequent cause of severe mental retardation and diminish MECP2 and CDKL5 expression.
Zweier M, Gregor A, Zweier C, Engels H, Sticht H, Wohlleber E, Bijlsma EK, Holder SE, Zenker M, Rossier E, Grasshoff U, Johnson DS, Robertson L, Firth HV; Cornelia Kraus, Ekici AB, Reis A, Rauch A.
Hum Mutat 31(6):722-33. 2010
9DEL5Q14
Periventricular heterotopia, mental retardation, and epilepsy associated with 5q14.3-q15 deletion.
Cardoso C, Boys A, Parrini E, Mignon-Ravix C, McMahon JM, Khantane S, Bertini E, Pallesi E, Missirian C, Zuffardi O, Novara F, Villard L, Giglio S, Chabrol B, Slater HR, Moncla A, Scheffer IE, Guerrini R.
Neurology 72(9):784-92. Epub 2008 Dec 10. 2009
10DEL5Q14
Interstitial deletion 5q14.3-q21 associated with iris coloboma, hearing loss, dental anomaly, moderate intellectual disability, and attention deficit and hyperactivity disorder.
Sobreira N, Walsh MF, Batista D, Wang T.
Am J Med Genet A 149A(11):2581-3. No abstract available. 2009
11ADGRV1, CETN3, DEL5Q14, LYSMD3, POLR3G
A novel microdeletion syndrome involving 5q14.3-q15: clinical and molecular cytogenetic characterization of three patients.
Engels H, Wohlleber E, Zink A, Hoyer J, Ludwig KU, Brockschmidt FF, Wieczorek D, Moog U, Hellmann-Mersch B, Weber RG, Willatt L, Kreiss-Nachtsheim M, Firth HV, Rauch A.
Eur J Hum Genet 17(12):1592-9. Epub 2009 May 27. 2009