INTRODUCTION: Mutations in the gene that encodes filamin C, FLNC, represent a rare cause of a distinctive type of myofibrillar myopathy (MFM). METHODS: We investigated an Italian patient by means of muscle biopsy, muscle and brain imaging and molecular analysis of MFM genes. RESULTS: The patient harbored a novel 7256C>T, p.Thr2419Met mutation in exon 44 of FLNC. Clinical, pathological and muscle MRI findings were similar to the previously described filaminopathy cases. This patient had, in addition, cerebellar ataxia with atrophy of cerebellum and vermis evident on brain MRI scan. Extensive screening failed to establish a cause of cerebellar atrophy. CONCLUSIONS: We report an Italian filaminopathy patient, with a novel mutation in a highly conserved region. This case raises the possibility that the disease spectrum caused by FLNC may include cerebellar dysfunction.
INTRODUCTION: Mutations in the gene that encodes filamin C, FLNC, represent a rare cause of a distinctive type of myofibrillar myopathy (MFM). METHODS: We investigated an Italian patient by means of muscle biopsy, muscle and brain imaging and molecular analysis of MFM genes. RESULTS: The patient harbored a novel 7256C>T, p.Thr2419Met mutation in exon 44 of FLNC. Clinical, pathological and muscle MRI findings were similar to the previously described filaminopathy cases. This patient had, in addition, cerebellar ataxia with atrophy of cerebellum and vermis evident on brain MRI scan. Extensive screening failed to establish a cause of cerebellar atrophy. CONCLUSIONS: We report an Italian filaminopathypatient, with a novel mutation in a highly conserved region. This case raises the possibility that the disease spectrum caused by FLNC may include cerebellar dysfunction.
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Authors: Job A J Verdonschot; Els K Vanhoutte; Godelieve R F Claes; Apollonia T J M Helderman-van den Enden; Janneke G J Hoeijmakers; Debby M E I Hellebrekers; Amber de Haan; Imke Christiaans; Ronald H Lekanne Deprez; Hanne M Boen; Emeline M van Craenenbroeck; Bart L Loeys; Yvonne M Hoedemaekers; Carlo Marcelis; Marlies Kempers; Esther Brusse; Jaap I van Waning; Annette F Baas; Dennis Dooijes; Folkert W Asselbergs; Daniela Q C M Barge-Schaapveld; Pieter Koopman; Arthur van den Wijngaard; Stephane R B Heymans; Ingrid P C Krapels; Han G Brunner Journal: Hum Mutat Date: 2020-03-20 Impact factor: 4.878