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Two novel variants in the TCF12 gene identified in cases with craniosynostosis.

ABSTRACT: Craniosynostosis (CS) is a condition where one or more of the cranial sutures fuse prematurely. It affects almost 1/2,000 newborns, and includes both syndromic and non-syndromic cases. To date, variants in over 70 different genes have been associated with the expression of CS. In this report, we describe two unrelated cases that presented with coronal CS. TCF12 sequencing analysis revealed novel frameshift nucleotide variants, which were evaluated as pathogenic according to the current guidelines for interpreting sequence variants. These findings expand the spectrum of TCF12 gene variants related with CS and support the importance of screening for such variants in patients with coronal synostosis.

SUBMITTER: Goumenos A

PROVIDER: S-EPMC6385741 | biostudies-literature | 2019

REPOSITORIES: biostudies-literature

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Two novel variants in the <i>TCF12</i> gene identified in cases with craniosynostosis.

Goumenos Athanasios A Tsoutsou Eirini E Traeger-Synodinos Joanne J Petychakis Dimitrios D Gavra Maria M Kolialexi Aggeliki A Frysira Helena H

The application of clinical genetics 20190212

Craniosynostosis (CS) is a condition where one or more of the cranial sutures fuse prematurely. It affects almost 1/2,000 newborns, and includes both syndromic and non-syndromic cases. To date, variants in over 70 different genes have been associated with the expression of CS. In this report, we describe two unrelated cases that presented with coronal CS. <i>TCF12</i> sequencing analysis revealed novel frameshift nucleotide variants, which were evaluated as pathogenic according to the current gu ...[more]

PMID: 30858722

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