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NGS targeted screening of 100 Scandinavian patients with coronal synostosis

Journal article
Authors Alexandra Topa
Anna Rohlin
Mattias K Andersson
Andre Fehr
L. Lovmar
Göran Stenman
Lars Kölby
Published in American Journal of Medical Genetics Part A
Volume 182
Issue 2
Pages 348-356
ISSN 1552-4825
Publication year 2020
Published at Institute of Biomedicine
Department of Laboratory Medicine
Institute of Clinical Sciences
Pages 348-356
Language en
Keywords coronal, craniosynostosis, multiple, syndromic, genetics, NGS, cell fate, craniosynostosis, mutations, genetics, spectrum, specc1l, bone, msx1, Genetics & Heredity
Subject categories Medical Genetics


Craniosynostosis (CS), the premature closure of one or more cranial sutures, occurs both as part of a syndrome or in isolation (nonsyndromic form). Here, we have studied the prevalence and spectrum of genetic alterations associated with coronal suture closure in 100 Scandinavian patients treated at a single craniofacial unit. All patients were phenotypically assessed and analyzed with a custom-designed 63 gene NGS-panel. Most cases (78%) were syndromic forms of CS. Pathogenic and likely pathogenic variants explaining the phenotype were found in 80% of the families with syndromic CS and in 14% of those with nonsyndromic CS. Sixty-five percent of the families had mutations in the CS core genes FGFR2, TWIST1, FGFR3, TCF12, EFNB1, FGFR1, and POR. Five novel pathogenic/likely pathogenic variants in TWIST1, TCF12, and EFNB1 were identified. We also found novel variants in SPECC1L, IGF1R, and CYP26B1 with a possible modulator phenotypic effect. Our findings demonstrate that NGS targeted sequencing is a powerful tool to detect pathogenic mutations in patients with coronal CS and further emphasize the importance of thorough assessment of the patient's phenotype for reliable interpretation of the molecular findings. This is particularly important in patients with complex phenotypes and rare forms of CS.

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