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

TY - JOUR

T1 - A novel case of MSTO1 gene related congenital muscular dystrophy with progressive neurological involvement

AU - Ardicli, Didem

AU - Sarkozy, Anna

AU - Zaharieva, Irina

AU - Deshpande, Charu

AU - Bodi, Istvan

AU - Siddiqui, Ata

AU - U-King-Im, Jean Marie

AU - Selfe, Amy

AU - Phadke, Rahul

AU - Jungbluth, Heinz

AU - Muntoni, Francesco

PY - 2019/6/1

Y1 - 2019/6/1

N2 - 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.

AB - 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.

KW - Ataxia

KW - Cerebellar atrophy

KW - MSTO1

KW - Muscular dystrophy

KW - Progressive cerebellar involvement

U2 - 10.1016/j.nmd.2019.03.011

DO - 10.1016/j.nmd.2019.03.011

M3 - Article

AN - SCOPUS:85065921363

SN - 0960-8966

VL - 29

SP - 448

EP - 455

JO - Neuromuscular Disorders

JF - Neuromuscular Disorders

IS - 6

ER -