Article
Unexpected role of SIX1 variants in craniosynostosis: expanding the phenotype of SIX1-related disorders.
Journal of medical genetics - 1 Feb 2022
Calpena Eduardo, Wurmser Maud, McGowan Simon J, Atique Rodrigo, Bertola Débora R, Cunningham Michael L, Gustafson Jonas A, Johnson David, Morton Jenny E V, Passos-Bueno Maria Rita, Timberlake Andrew T, Lifton Richard P, Wall Steven A, Twigg Stephen R F, Maire Pascal, Wilkie Andrew O M
Abstract excerpt
BACKGROUND: Pathogenic heterozygous SIX1 variants (predominantly missense) occur in branchio-otic syndrome (BOS), but an association with craniosynostosis has not been reported. METHODS: We investigated probands with craniosynostosis of unknown cause using whole exome/genome (n=628) or RNA (n=386) sequencing, and performed targeted resequencing of SIX1 in 615 additional patients. Expression of SIX1 protein in...
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