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Global transcriptional disturbances underlie Cornelia de Lange syndrome and related phenotypes. | LitMetric

AI Article Synopsis

  • * A study of two male siblings diagnosed with Wiedemann-Steiner syndrome (WDSTS) revealed a damaging mutation in the SMC1A gene, while an evaluation of 32 Turkish patients with CdLS found a new mutation in KMT2A in one patient lacking classic WDSTS characteristics.
  • * Researchers also discovered mutations in genes associated with RNA splicing in patients displaying both CdLS and WDSTS features, and identified mutations in TAF6 in families with CdLS-like traits, leading

Article Abstract

Cornelia de Lange syndrome (CdLS) is a genetically heterogeneous disorder that presents with extensive phenotypic variability, including facial dysmorphism, developmental delay/intellectual disability (DD/ID), abnormal extremities, and hirsutism. About 65% of patients harbor mutations in genes that encode subunits or regulators of the cohesin complex, including NIPBL, SMC1A, SMC3, RAD21, and HDAC8. Wiedemann-Steiner syndrome (WDSTS), which shares CdLS phenotypic features, is caused by mutations in lysine-specific methyltransferase 2A (KMT2A). Here, we performed whole-exome sequencing (WES) of 2 male siblings clinically diagnosed with WDSTS; this revealed a hemizygous, missense mutation in SMC1A that was predicted to be deleterious. Extensive clinical evaluation and WES of 32 Turkish patients clinically diagnosed with CdLS revealed the presence of a de novo heterozygous nonsense KMT2A mutation in 1 patient without characteristic WDSTS features. We also identified de novo heterozygous mutations in SMC3 or SMC1A that affected RNA splicing in 2 independent patients with combined CdLS and WDSTS features. Furthermore, in families from 2 separate world populations segregating an autosomal-recessive disorder with CdLS-like features, we identified homozygous mutations in TAF6, which encodes a core transcriptional regulatory pathway component. Together, our data, along with recent transcriptome studies, suggest that CdLS and related phenotypes may be "transcriptomopathies" rather than cohesinopathies.

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Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4319410PMC
http://dx.doi.org/10.1172/JCI77435DOI Listing

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