title: SBF1 mutations associated with autosomal recessive axonal neuropathy with cranial nerve involvement.
abstract: Biallelic mutations in the SBF1 gene have been identified in one family with demyelinating Charcot-Marie-Tooth disease (CMT4B3) and two families with axonal neuropathy and additional neurological and skeletal features. Here we describe novel sequence variants in SBF1 (c.1168C>G and c.2209_2210del) as the potential causative mutations in two siblings with severe axonal neuropathy, hearing loss, facial weakness and bulbar features. Pathogenicity of these variants is supported by co-segregation and in silico analyses and evolutionary conservation. Our findings suggest that SBF1 mutations may cause a syndromic form of autosomal recessive axonal neuropathy (AR-CMT2) in addition to CMT4B3.
authors.affiliation: MRC Centre for Neuromuscular Diseases, UCL Institute of Neurology, Queen Square, London, UK.|Department of Molecular Neuroscience, UCL Institute of Neurology, Queen Square, London, UK.
authors.forename: Andreea
authors.initials: A
authors.lastname: Manole
authors.affiliation: MRC Centre for Neuromuscular Diseases, UCL Institute of Neurology, Queen Square, London, UK.
authors.forename: Alejandro
authors.initials: A
authors.lastname: Horga
authors.affiliation: Neuromuscular Disorders Unit, Department of Neurology, Hospital Universitari Vall d'Hebron and Universitat Autònoma de Barcelona, VHIR, Passeig Vall d'Hebron, 119-135, 08035, Barcelona, Spain. josepgamez.bcn@gmail.com.
authors.forename: Josep
authors.initials: J
authors.lastname: Gamez
authors.affiliation: Department of Neurophysiology, Hospital Universitari Vall d'Hebron and Universitat Autònoma de Barcelona, VHIR, Barcelona, Spain.
authors.forename: Nuria
authors.initials: N
authors.lastname: Raguer
authors.affiliation: Neuromuscular Disorders Unit, Department of Neurology, Hospital Universitari Vall d'Hebron and Universitat Autònoma de Barcelona, VHIR, Passeig Vall d'Hebron, 119-135, 08035, Barcelona, Spain.
authors.forename: Maria
authors.initials: M
authors.lastname: Salvado
authors.affiliation: Department of Neuropathology, Complejo Hospitalario Universitario de Vigo, Vigo, Spain.
authors.forename: Beatriz
authors.initials: B
authors.lastname: San Millán
authors.affiliation: Department of Neuropathology, Complejo Hospitalario Universitario de Vigo, Vigo, Spain.
authors.forename: Carmen
authors.initials: C
authors.lastname: Navarro
authors.affiliation: Department of Molecular Neuroscience, UCL Institute of Neurology, Queen Square, London, UK.
authors.forename: Alan
authors.initials: A
authors.lastname: Pittmann
authors.affiliation: MRC Centre for Neuromuscular Diseases, UCL Institute of Neurology, Queen Square, London, UK.
authors.forename: Mary M
authors.initials: MM
authors.lastname: Reilly
authors.affiliation: MRC Centre for Neuromuscular Diseases, UCL Institute of Neurology, Queen Square, London, UK.|Department of Molecular Neuroscience, UCL Institute of Neurology, Queen Square, London, UK.
authors.forename: Henry
authors.initials: H
authors.lastname: Houlden
mesh_terms: D000328:Adult; D001284:Atrophy / Q000235:genetics; D001369:Axons / Q000473:pathology; D002607:Charcot-Marie-Tooth Disease / Q000150:complications / Q000235:genetics* / Q000473:pathology; D003389:Cranial Nerve Diseases / Q000235:genetics* / Q000473:pathology; D003391:Cranial Nerves / Q000002:abnormalities / Q000473:pathology; D005808:Genes, Recessive; D034381:Hearing Loss / Q000235:genetics / Q000473:pathology; D006801:Humans; D047908:Intracellular Signaling Peptides and Proteins / Q000235:genetics*; D008297:Male; D020125:Mutation, Missense; D009421:Nervous System Malformations / Q000235:genetics*; D010375:Pedigree; D035781:Siblings
chemical_list: D047908:Intracellular Signaling Peptides and Proteins; C111446:SBF1 protein, human
keywords: Charcot-Marie-Tooth disease; Inherited neuropathy; MTMR2; SBF1; SBF2; Whole-exome sequencing