5q14.3 neurocutaneous syndrome: A novel continguous gene syndrome caused by simultaneous deletion of RASA1 and MEF2C

American Journal of Medical Genetics, Part A

Volumn 155, Issue 7, 2011, Pages 1640-1645

  Carr, Christopher W ^a   Zimmerman, Holly H ^b   Martin, Christa Lese ^c   Vikkula, Miikka ^d   Byrd, Adam C ^b   Abdul Rahman, Omar A ^b  

^a METHODIST UNIVERSITY HOSPITAL   (United States)

^b UNIVERSITY OF MISSISSIPPI MEDICAL CENTER   (United States)

^c EMORY UNIVERSITY SCHOOL OF MEDICINE   (United States)

^d DE DUVE INSTITUTE   (Belgium)

Author keywords

CM AVM; MEF2C; Mental retardation; Neurocutaneous syndromes; RASA

Indexed keywords

ADOLESCENT; ARTICLE; CASE REPORT; CAUCASIAN; CHROMOSOME 17Q; CHROMOSOME 5Q14.3 DELETION; CHROMOSOME DELETION 5; COMPARATIVE GENOMIC HYBRIDIZATION; COPY NUMBER VARIATION; DOPPLER FLOWMETRY; FLUORESCENCE IN SITU HYBRIDIZATION; GENE; HAPLOINSUFFICIENCY; HUMAN; MALE; MEF2C GENE; MUSCLE HYPOTONIA; NEUROLOGIC DISEASE; NEUROLOGIC EXAMINATION; NUCLEAR MAGNETIC RESONANCE IMAGING; PHAKOMATOSIS; PHYSICAL EXAMINATION; PRIORITY JOURNAL; RASA1 GENE; SKIN DISEASE; SKIN EXAMINATION; VITILIGO;

ADOLESCENT; BRAIN; CHILD; CHILD, PRESCHOOL; CHROMOSOME BANDING; CHROMOSOMES, HUMAN, PAIR 5; COMPARATIVE GENOMIC HYBRIDIZATION; GENE DELETION; GENE ORDER; HAPLOINSUFFICIENCY; HUMANS; INFANT; INFANT, NEWBORN; MADS DOMAIN PROTEINS; MAGNETIC RESONANCE IMAGING; MALE; MYOGENIC REGULATORY FACTORS; NEUROCUTANEOUS SYNDROMES; P120 GTPASE ACTIVATING PROTEIN; PHENOTYPE; SKIN;

EID: 79959521940     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.34059     Document Type: Article

References (20)

1. Baldwin EL, Lee JY, Blake DM, Bunke BP, Alexander CR, Kogan AL, Ledbetter DH, Martin CL. 2008. Enhanced detection of clinically relevant genomic imbalances using a targeted plus whole genome oligonucleotide microarray. Genet Med 10: 415-429.
2. Boon LM, Mulliken JB, Vikkula M. 2005. RASA1: Variable phenotype with capillary and arteriovenous malformations. Curr Opin Genet Dev 15: 265-269.
3. 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. 2009. Periventricular heterotopia, mental retardation, and epilepsy associated with 5q14.3-q15 deletion. Neurology 72: 784-792.
4. Clark GJ, Quilliam LA, Hisaka MM, Der CJ. Differential antagonism of Ras biological activity by catalytic and Src homology domains of Ras GTPase activation protein. 1993. Proc Natl Acad Sci USA 90: 4887-4891.
5. Eerola I, Boon LM, Mulliken JB, Burrows PE, Dompmartin A, Watanabe S, Vanwijck R, Vikkula M. 2003. Capillary malformation-arteriovenous malformation, a new clinical and genetic disorder caused by RASA1 mutations. Am J Hum Genet 73: 1240-1249.
6. Eki T, Okumura K, Abe M, Kagotani K, Taguchi H, Murakami Y, Pan ZQ, Hanaoka F. 1998. Mapping of the human genes encoding cyclin H (CCNH) and the CDK-activating kinase (CAK) assembly factor MAT1 (MNAT1) to chromosome bands 5q13.3-q14 and 14q23, respectively. Genomics 47: 115-120.
7. 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. 2009. A novel microdeletion syndrome involving 5q14.3-q15: Clinical and molecular cytogenetic characterization of three patients. Eur J Hum Genet 17: 1592-1599.
8. Ezugha H, Goldenthal M, Valencia I, Anderson CE, Legido A, Marks H. 2010. 5q14.3 deletion manifesting as mitochondrial disease and autism: Case report. J Child Neurol 25: 1232-1235.
9. Hershkovitz D, Bercovich D, Sprecher E, Lapidot M. 2008. RASA1 mutations may cause hereditary capillary malformations without arteriovenous malformations. British Journal of Dermatology 158: 1035-1040.
10. Iafrate AJ, Feuk L, Rivera MN, Listewnik ML, Donahoe PK, Qi Y, Scherer SW, Lee C. 2004. Detection of large-scale variation in the human genome. Nat Genet 36: 949-951. Database of Genomic Variants. 20 May 2009 .
11. Kleinjan DA, van Heyningen V. 2005. Long-range control of gene expression: Emerging mechanisms and disruption in disease. Am J Hum Genet 76: 8-32.
12. Lancet D, Safran M, Olender T, Dalah I, Iny-Stein T, Inger A, Harel A, Stelzer G. 2008. GeneCards tools for combinatorial annotation and dissemination of human genome information. GIACS Conference on Data in Complex Systems. .
13. 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. 2010. MEF2C haploinsufficiency caused either by microdeletion of the 5q14.3 region or mutation is responsible for severe mental retardation with stereotypic movements, epilepsy and/or cerebral malformations. J Med Genet 47: 22-29.
14. Limaye N, Boon LM, Vikkula M. 2009. From germline towards somatic mutations in the pathophysiology of vascular anomalies. Hum Mol Genet 18: R65-R74.
15. Novara F, Beri S, Giorda R, Ortibus E, Nageshappa S, Darra F, Bernardina BD, Zuffardi O, Van Esch H. 2010. Refining the phenotype associated with MEF2C haploinsufficiency. Clin Genet 78: 471-477.
16. 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. 2010. Severe mental retardation, seizures, and hypotonia due to deletions of MEF2C. Am J Med Genet B Neuropsychiatr Genet 153B: 1042-1051.
17. Potthoff MJ, Wu H, Arnold MA, Shelton JM, Backs J, McAnally J, Richardson JA, Bassel-Duby R, Olson EN. 2007. Histone deacetylase degradation and MEF2 activation promote the formation of slow-twitch myofibers. J Clin Invest 117: 2459-2467.
18. Revencu N, Boon LM, Mulliken JB, Enjolras O, Cordisco MR, Burrows PE, Clapuyt P, Hammer F, Dubois J, Baselga E, Brancati F, Carder R, Quintal JM, Dallapiccola B, Fischer G, Frieden IJ, Garzon M, Harper J, Johnson-Patel J, Labrèze C, Martorell L, Paltiel HJ, Pohl A, Prendiville J, Quere I, Siegel DH, Valente EM, Van Hagen A, Van Hest L, Vaux KK, Vicente A, Weibel L, Chitayat D, Vikkula M. 2008. Parkes Weber syndrome, vein of Galen aneurysmal malformation, and other fast-flow vascular anomalies are caused by RASA1 mutations. Hum Mutat 29: 959-965.
19. Thiex R, Mulliken JB, Revencu N, Boon LM, Burrows PE, Cordisco M, Dwight Y, Smith ER, Vikkula M, Orbach DB. 2010. A novel association between RASA1 mutations and spinal arteriovenous anomalies. Am J Neuroradiol 31: 775-779.
20. 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, Kraus C, Ekici AB, Reis A, Rauch A. 2010. Mutations in MEF2C from the 5q14.3q15 microdeletion syndrome region are a frequent cause of severe mental retardation and diminish MECP2 and CDKL5 expression. Hum Mutat 31: 722-733.