A novel case of MSTO1 gene related congenital muscular dystrophy with progressive neurological involvement

•We describe a novel patient with recessive missense MSTO1 gene mutations.•We observe progressive neurological phenotype with upper motor neuron sign.•We report a distinct pattern of selective muscle MRI involvement. Recessive mutations in the MSTO1 gene, encoding for a mitochondrial distribution an...

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Bibliographic Details
Published in:Neuromuscular disorders : NMD 2019-06, Vol.29 (6), p.448-455
Main Authors: Ardicli, Didem, Sarkozy, Anna, Zaharieva, Irina, Deshpande, Charu, Bodi, Istvan, Siddiqui, Ata, U-King-Im, Jean Marie, Selfe, Amy, Phadke, Rahul, Jungbluth, Heinz, Muntoni, Francesco
Format: Article
Language:English
Subjects:
Ataxia
Cerebellar atrophy
MSTO1
Muscular dystrophy
Progressive cerebellar involvement
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Summary:•We describe a novel patient with recessive missense MSTO1 gene mutations.•We observe progressive neurological phenotype with upper motor neuron sign.•We report a distinct pattern of selective muscle MRI involvement. Recessive mutations in the MSTO1 gene, encoding for a mitochondrial distribution and morphology regulator, have been recently described in a very limited number of patients with multisystem involvement, mostly characterized by myopathy or dystrophy, cerebellar ataxia, pigmentary retinopathy and raised creatine kinase levels. Here we report an additional patient with recessive MSTO1-related muscular dystrophy (MSTO1-RD), and clinical and radiological evidence of progressive cerebellar involvement. Whole-exome sequencing identified two novel MSTO1 missense variants, c.766C > T (p. (Arg256Trp) and c.1435C > T (p. (Pro479Ser), predicted as damaging by in silico tools. We also report a distinct pattern of selective involvement on muscle MRI in MSTO1-RD. This case confirms a consistent MSTO1-related neuromuscular phenotype and in addition suggests a progressive neurological component at least in some patients, in keeping with the mitochondrial role of the defective protein.
ISSN:0960-8966
1873-2364
DOI:10.1016/j.nmd.2019.03.011