Antley-Bixler syndrome / Apert syndrome / LADD syndrome
Definition
The FGFR2 gene encodes a receptor that bridges extracellular signals and intracellular tyrosine kinase activity; specific variants in different exons lead to different syndromes. In Apert syndrome the p.Ser252Trp/p.Pro253Arg variants present with craniosynostosis, midface hypoplasia and syndactyly; Antley-Bixler syndrome with multiple-suture synostosis and joint contractures; and LADD syndrome with lacrimo-auriculo-dento-digital anomalies.
Gene/region analyzed
FGFR2 - Exon 2, FGFR2 - Exon 3, FGFR2 - Exon 4, FGFR2 - Exon 5, FGFR2 - Exon 6, FGFR2 - Exon 7, FGFR2 - Exon 8, FGFR2 - Exon 9, FGFR2 - Exon 10, FGFR2 - Exon 11, FGFR2 - Exon 12, FGFR2 - Exon 13, FGFR2 - Exon 14, FGFR2 - Exon 15, FGFR2 - Exon 16, FGFR2 - Exon 17, FGFR2 - Exon 18
Method
Sequence analysis
Accepted sample types
EDTA blood, AF, CVS
Inheritance
Hereditary, autosomal dominant (AD); the great majority of Apert cases are de novo.