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Review
. 2017 Sep;6(3):129-141.
doi: 10.1055/s-0037-1601335. Epub 2017 Apr 12.

Further Clinical Delineation of the MEF2C Haploinsufficiency Syndrome: Report on New Cases and Literature Review of Severe Neurodevelopmental Disorders Presenting with Seizures, Absent Speech, and Involuntary Movements

Irena Vrečar  1   2 , Josie Innes  1 , Elizabeth A Jones  1   3 , Helen Kingston  1   3 , William Reardon  4 , Bronwyn Kerr  1   3 , Jill Clayton-Smith  1   3 , Sofia Douzgou  1   3
Affiliations
Review

Further Clinical Delineation of the MEF2C Haploinsufficiency Syndrome: Report on New Cases and Literature Review of Severe Neurodevelopmental Disorders Presenting with Seizures, Absent Speech, and Involuntary Movements

Irena Vrečar et al. J Pediatr Genet. 2017 Sep.

Abstract

Mutations in the MEF2C ( myocyte enhancer factor 2 ) gene have been established as a cause for an intellectual disability syndrome presenting with seizures, absence of speech, stereotypic movements, hypotonia, and limited ambulation. Phenotypic overlap with Rett's and Angelman's syndromes has been noted. Following the first reports of 5q14.3q15 microdeletions encompassing the MEF2C gene, further cases with point mutations and partial gene deletions of the MEF2C gene have been described. We present the clinical phenotype of our cohort of six patients with MEF2C mutations and compare our findings with previously reported patients as well as with a growing number of genetic conditions presenting with a severe neurodevelopmental, Rett-like, phenotype. We aim to add to the current knowledge of the natural history of the "MEF2C haploinsufficiency syndrome" as well as of the differential diagnosis, clinical management, and genetic counseling in this diagnostically challenging group of patients.

Keywords: MEF2C; epilepsy; intellectual disability; involuntary movements; speech delay.

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Figures

Fig. 1
Fig. 1
Frontal and lateral views of patients with MEF2C ( myocyte enhancer factor 2 ) linked syndrome. ( A ) Patient 1 at the age of 2 years. Note broad forehead, pale blue eyes, flat nasal bridge, characteristic prominent philtral pillars, and short columella. ( B ) Patient 3 at the age of 3 years and 5 months. Note pale blue eyes, prominent philtrum, tented upper lip, and wide mouth with thick lower lip. ( C ) Patient 5 at the age of 3 years. Note the characteristic “ceiling-gazing” behavior and slight tenting of the upper lip.
Fig. 2
Fig. 2
Microarray findings. Deletions of the MEF2C ( myocyte enhancer factor 2 ) gene in the genomic region 5q14.3q15 with the location of the deletions of our novel patients: patients 1, 2, and 4 are presented from bottom to top.
See this image and copyright information in PMC

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