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• W2392834811 abstract "PurposeRett syndrome (RTT) is a neurodevelopmental disorder caused primarily by de novo mutations in MECP2 and sometimes in CDKL5 and FOXG1. However, some RTT patients lack mutations in these genes.MethodsTwenty-two RTT patients without apparent MECP2, CDKL5, and FOXG1 mutations were subjected to both whole-exome sequencing and single-nucleotide polymorphism array–based copy-number variant (CNV) analyses.ResultsThree patients had MECP2 mutations initially missed by clinical testing. Of the remaining 19, 17 (89.5%) had 29 other likely pathogenic intragenic mutations and/or CNVs (10 patients had 2 or more). Interestingly, 13 patients had mutations in a gene/region previously reported in other neurodevelopmental disorders (NDDs), thereby providing a potential diagnostic yield of 68.4%. These mutations were significantly enriched in chromatin regulators (corrected P = 0.0068) and moderately enriched in postsynaptic cell membrane molecules (corrected P = 0.076), implicating glutamate receptor signaling.ConclusionThe genetic etiology of RTT without MECP2, CDKL5, and FOXG1 mutations is heterogeneous, overlaps with other NDDs, and complicated by a high mutation burden. Dysregulation of chromatin structure and abnormal excitatory synaptic signaling may form two common pathological bases of RTT." @default.
• W2392834811 created "2016-06-24" @default.
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• W2392834811 date "2017-01-01" @default.
• W2392834811 modified "2023-10-16" @default.
• W2392834811 title "Enrichment of mutations in chromatin regulators in people with Rett syndrome lacking mutations in MECP2" @default.
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• W2392834811 doi "https://doi.org/10.1038/gim.2016.42" @default.
• W2392834811 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/5107176" @default.
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