INF2 mutations in Charcot‐Marie‐Tooth disease complicated with focal segmental glomerulosclerosis

De novo INF2 mutations expand the genetic spectrum of hereditary neuropathy with glomerulopathy

“…Nerve conduction studies showed demyelinating neuropathy with upper limb motor nerve conduction velocities of 13.4 to 32.7 m/s. 8,9 The p.Gly114Asp mutant is predicted to cause serious sterical hindrance of the Met65 and Val108 residues; the latter amino acid is mutated in a reported patient. Brain abnormalities under the form of enlarged lateral ventricles were found in patient PN-2138.1 and CMT-170.02 who also displayed marked psychomotor developmental delay with mental retardation.…”

“…Neuropathy severity was mild to moderate as measured by the CMT Neuropathy Score. 9 Both identified missense mutations are likely to affect protein structure and function (figure 2A), whereas the in-frame deletion leads to loss of highly conserved residues. In addition, patient CMT-170.02 developed sensorineural hearing loss requiring cochlear implants.…”

A novel INF2 mutation in a Korean family with autosomal dominant intermediate Charcot‐Marie‐Tooth disease and focal segmental glomerulosclerosis

“…INF2 mutations were first reported in patients with CMT and FSGS in 2011 (Boyer et al, ) . Several studies have indicated that INF2 mutations are a main cause of dual pathology in patients of different ethnic groups (Mademan et al, ; Rodriguez et al, ; Toyota et al, ) . Clinically, patients with INF2 mutations show sensorimotor polyneuropathy and FSGS as well as sensorineural hearing loss and demyelinating brain lesions.…”

Inverted formins: A subfamily of atypical formins

“…Disease-associated amino acid substitutions and insertions of human INF2 are shown below the alignment, while deletions ((x2206)) are shown above the alignment. Mutations are color coded to indicate association with FSGS ( yellow ), CMT-FSGS ( red ), both FSGS and CMT-FSGS ( cyan ), or both FSGS and TMA ( green ) [Brown et al, 2010; Boyer et al, 2011a; Boyer et al, 2011b; Lee et al, 2011; Gbadegesin et al, 2012; Barua et al, 2013; Lipska et al, 2013; Mademan et al, 2013; Rodriguez et al, 2013; Sanchez-Ares et al, 2013; Toyota et al, 2013; Caridi et al, 2014; Laurin et al, 2014; Park et al, 2014; Quaglia et al, 2014; Roos et al, 2015; Xie et al, 2015; Bullich et al, 2015; Jin et al, 2015; Münch et al, 2016; Rood et al, 2016; Challis et al, 2017]. Numbers indicate amino acid positions.…”