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Background   MEF2C  (Myocyte-specific enhancer factor 2C) has been associated with neurodevelopmental disorders. This study aimed at delineating the clinical profiles of  MEF2C  gene mutations.    Methods  In total, 112 Chinese patients with intellectual disability (ID) were recruited, including 44 patients presented with Rett syndrome (RTT) or RTT-like syndrome, and 68 patients with non-syndromic ID. Targeted next-generation sequencing (NGS) was performed. Detailed clinical information was collected.    Results  Five heterozygous  MEF2C  gene mutations were identified, of which three were novel. The  MEF2C  mutant rate was 4.5% (5/112) in total, and 6.8% (3/44) in the RTT (−like) cohort. All patients with  MEF2C  gene mutation presented with cognitive impairment, gross motor delay, speech disorder and autistic features. Four patients had epilepsy, which responded well to antiepileptic drugs. One female was diagnosed with classical RTT, two females with RTT-like syndrome, and two males with non-syndromic ID. Generally, the phenotype of two males with relatively downstream mutations (c.565C > T, p.Arg 189*; c.766C > T, p.Arg 256*) was milder than that of three females with upstream mutations (c.48C > G, p.Asn16Lys; c.334G > T, p.Glu112* and c.403-1G > T).    Conclusions  Our findings expanded the current understanding of the consequences of  MEF2C  dysfunctions, especially  MEF2C  point mutations.  MEF2C  mutations are associated with a broad clinical spectrum, ranged from classical RTT to non-syndromic ID. Through our study, it can be inferred that there is correlation between the phenotype and  MEF2C -genotype, the mutation site. Overall, the  MEF2C  gene mutational analysis should be performed in ID cohort, especially in patients with features overlapped with RTT.    Electronic supplementary material  The online version of this article (10.1186/s12881-018-0699-1) contains supplementary material, which is available to authorized users.

bmc medical genetics

Novel MEF2C point mutations in Chinese patients with Rett (−like) syndrome or non-syndromic intellectual disability: insights into genotype-phenotype correlation