Jackson-Weiss syndrome

Jackson-Weiss syndrome also belongs to the craniosynostosis group of syndromes, presenting with a large degree of phenotypic variability, encompassing features of Crouzon, Pfeiffer and Apert syndromes. It is inherited in an autosomal dominant manner and is caused by specific mutations in the FGFR2 and FGFR3 genes. Most of the observed mutations are common with the ones detected in Crouzon and Pfeiffer syndrome patients, indicating a possible role of modifier genes or epigenetic factors in determining the final phenotype for these syndromes.

We perform automated bi-directional fluorescent DNA sequencing of exons 8 and 10 of the FGFR2 gene and exon 7 of the FGFR3 gene, allowing for the detection of more than 90% of pathological mutations for the disorder.