Identification of the third FGF9 variant in a girl with multiple synostosis-comparison of the genotype:phenotype of FGF9 variants in humans and mice

Multiple synostosis syndrome (SYNS) is a heterogeneous group of genetic disorders mainly characterized by multiple joint synostosis due to variants in either NOG, GDF5, FGF9 or GDF6. To date, only two FGF9 variants have been associated with SYNS, characterized with hand and feet joint synostosis and fusion of the elbow and vertebral lumbar joints. Craniosynostosis was also observed in one family. Here, we report the clinical and radiological description of a young girl with a third heterozygous FGF9 variant, NM_002010.2:c.427A>T;p.(Asn143Tyr), which interestingly, is located at the same amino acid as the well characterized spontaneous Eks mouse variant. We also compare the genotype: phenotypes observed between humans and mice with SYNS.