MEF2C mutations are a rare cause of Rett or severe Rett-like encephalopathies

Clinical Genetics

Volumn 82, Issue 5, 2012, Pages 499-501

  Lambert, L ^a,b,c   Bienvenu, T ^d,e   Allou, L ^a   Valduga, M ⁱ   Echenne, B ^f   Diebold, B ^g   Mignot, C ^h   Heron D ^h   Roth, V ^f   Saunier, A ^f   Moustaine A ^f   Jonveaux, P ^a,i   Philippe, C ^a,i  

^a UNIVERSITÉ DE LORRAINE   (France)

^b HÔPITAL D ENFANTS   (France)

^c Maternite Regionale Universitaire   (France)

^d Hôpital Cochin ^*  (France)

^e UNIVERSITÉ PARIS DESCARTES   (France)

^f MONTPELLIER UNIVERSITY HOSPITAL   (France)

^g HÔTEL DIEU   (France)

^h ASSISTANCE PUBLIQUE HÔPITAUX DE PARIS   (France)

ⁱ UNIVERSITY HOSPITAL OF NANCY   (France)

Author keywords

[No Author keywords available]

Indexed keywords

CASE REPORT; CHILD; CLINICAL FEATURE; EPILEPSY; FEMALE; GENE; GENE DELETION; GENETIC SCREENING; HUMAN; INFANT; LETTER; MAJOR CLINICAL STUDY; MALE; MEF 2C GENE; NUCLEOTIDE SEQUENCE; PHENOTYPE; PRIORITY JOURNAL; RETT LIKE ENCEPHALOPATHY; RETT SYNDROME; SCHOOL CHILD; SYMPTOM;

CHILD; CHILD, PRESCHOOL; EXONS; FEMALE; FORKHEAD TRANSCRIPTION FACTORS; GENE REARRANGEMENT; GENETIC VARIATION; HUMANS; INFANT; MADS DOMAIN PROTEINS; MALE; MUTATION; MYOGENIC REGULATORY FACTORS; NERVE TISSUE PROTEINS; PHENOTYPE; PROTEIN-SERINE-THREONINE KINASES; RETT SYNDROME;

EID: 84867637404     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/j.1399-0004.2012.01861.x     Document Type: Letter

References (3)

1. Zweier M, Gregor A, Zweier C et al. 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 2010: 31: 722-733.
2. Le Meur N, Holder-Espinasse M, Jaillard S et al. 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. J Med Genet 2010: 47: 22-29.
3. Williamson SL, Christodoulou J. Rett syndrome: new clinical and molecular insights. Eur J Hum Genet 2006: 14: 896-903.