Publications
ConferenceJan 2022

Craniosynostosis as an additional feature of rare genetic syndromes

Bukowska-Olech, E
Product Used
NGS
Abstract
Background Craniosynostosis (CS) represents a highly heterogeneous genetic condition whose genetic background has not been fully revealed yet. The abnormality occurs either as an isolated form or syndromic, an element of hundreds of different inborn syndromes. Consequently, CS may often constitute a challenging diagnostic issue. Methods gDNA samples were subjected to whole-exome sequencing. The coding and flanking intronic regions were enriched using a custom-designed insolution exome enrichment (TWIST bioscience, San Francisco, USA) and sequenced using the Illumina NovaSeq system (Illumina, San Diego, USA). Craniosynostosis Rare genetic disease Heterogenous in phenotypes and molecular causes Isolated or syndromic Single or compound Extensive treatment & multileveled medical care We revealed seven heterozygous variants in the seven patients in the following genes - ARID1A (linked to Coffin-Siris type 2 syndrome), KMT2A (linked to Wiedemann-Steiner syndrome), KMT2D (linked to Kabuki type 1 syndrome), MN1 (linked to MN1 C-terminal truncation syndrome; MCTT syndrome, and CEBALID syndrome), NSD1 (linked to Sotos type 1 syndrome), and FAM111A (linked to Gracile bone dysplasia, and Kenny-Caffey syndrome type 2). We have shown that CS may be an additional feature of different, not associated earlier with it, syndromes. We have also pinpointed the possible underestimated co-occurrence of CS and intellectual disability, suggesting it may be overlooked when intellectual disability constitutes a primary clinical complaint. C
Product Used
NGS

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