A combination of linkage analysis and exome sequencing identifies a new gene for X-linked Charcot-Marie-Tooth neuropathy

Abstract

Charcot–Marie–Tooth neuropathy (CMT) is a clinically and genetically heterogeneous group of disorders characterized by chronic motor and sensory polyneuropathy. It is the most common hereditary neuromuscular disorder presenting in neurogenetics clinics and affects approximately 1 in 2500 people. Patients present with distal wasting and weakness with pes cavus or foot drop. Sensory symptoms are not always present but may include numbness, pins and needles, loss of balance, and insensitivity to temperature and pain. X-linked Charcot–Marie–Tooth (CMTX) disease accounts for 10–15% of all CMT. We have identified a large family with probable X-linked dominant axonal motor and sensory polyneuropath..