Biallelic mutations in FLNB cause a skeletal dysplasia with 46,XY gonadal dysgenesis by activating β-catenin.

Abstract excerpt

Filamin B (FLNB) functions as a switch that can affect chrondrocyte development and endochondral bone formation through a series of signaling molecules and transcription factors that also affect Sertoli cell development. Here, we report a subject with a novel skeletal dysplasia and co-existing 46,XY gonadal dysgenesis and biallelic mutations in FLNB. Whole exome sequencing was performed to identify mutations....

Topics

• Filamins
• Gain of Function Mutation
• Gonadal Dysgenesis, 46,XY
• Humans
• Infant, Newborn
• MAP Kinase Kinase Kinase 1
• Male
• Multiprotein Complexes
• Musculoskeletal Abnormalities
• Mutation
• Osteochondrodysplasias