Fibulin-5 mutation featuring Charcot-Marie-Tooth disease, joint hyperlaxity, and scoliosis.

Fibulin-5 (FBLN5) is an extracellular matrix glycoprotein expressed in elastic fiber-rich tissues.(1) Mutations affecting the first epidermal growth factor domain feature a spinal Charcot-Marie-Tooth (CMT) phenotype, whereas the C-terminus c.1117C>T variant causes demyelinating sensorimotor polyneuropathy.(2) Besides CMT, FBLN5 mutations also feature age-related macular degeneration and cutis laxa.(3) FBLN5-associated CMT was reported in 6 families from Austria,(2) the Czech Republic,(4) and China,(5) with 4 possessing the c.1117C>T (p.Arg373Cys) mutation.(2,4,5) Joint hyperlaxity and scoliosis were reported in 1 spinal CMT Austrian family due to a p.Gly90Ser mutation, but never with p.Arg373Cys-associated CMT-1.(2) We describe the phenotype of a family with FBLN5-associated CMT-1 featuring younger symptom onset, joint hyperlaxity, and scoliosis.