A case of mitochondrial DNA depletion syndrome type 11 – expanding the genotype and phenotype

•Mutations in MGME1 gene cause mitochondrial DNA depletion syndrome type 11.•Our patient had a novel pathogenic variant in the MGME1 gene (c.862C>T; p.Gln288*).•This new variant may lead to a relatively mild presentation.•This report contribute to the characterization of this ultra-rare disorder....

Full description

Saved in:
Bibliographic Details
Published in:Neuromuscular disorders : NMD 2023-08, Vol.33 (8), p.692-696
Main Authors: da Silva Rocha, Emanuelle Bianchi, de Lima Rodrigues, Ketteny, Montouro, Laura Alonso Matheus, Coelho, Érica Nogueira, Kouyoumdjian, João Aris, Kok, Fernando, Nóbrega, Paulo Ribeiro, Graca, Carla Renata, Morita, Maria da Penha Ananias, Estephan, Eduardo de Paula
Format: Article
Language:English
Subjects:
Chronic progressive external ophthalmoplegia
MGME1
Mitochondrial diseases
mtDNA depletion syndrome
Citations: Items that this one cites
Items that cite this one
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
Description
Summary:•Mutations in MGME1 gene cause mitochondrial DNA depletion syndrome type 11.•Our patient had a novel pathogenic variant in the MGME1 gene (c.862C>T; p.Gln288*).•This new variant may lead to a relatively mild presentation.•This report contribute to the characterization of this ultra-rare disorder. Mitochondrial DNA depletion syndrome type 11 (MTDPS11) is caused by pathogenic variants in MGME1 gene. We report a woman, 40-year-old, who presented slow progressive drop eyelid at 11-year-old with, learning difficulty and frequent falls. Phisical examination revealed: mild scoliosis, elbow hyperextensibility, flat feet, chronic progressive external ophthalmoplegia with upper eyelid ptosis, diffuse hypotonia, and weakness of arm abduction and neck flexion. Investigation evidenced mild serum creatine kinase increase and glucose intolerance; second-degree atrioventricular block; mild mixed-type respiratory disorder and atrophy and granular appearance of the retinal pigment epithelium. Brain magnetic resonance showed cerebellar atrophy. Muscle biopsy was compatible with mitochondrial myopathy. Genetic panel revealed a homozygous pathogenic variant in the MGME1 gene, consistent with MTDPS11 (c.862C>T; p.Gln288*). This case of MTDPS11 can contribute to the phenotypic characterization of this ultra-rare mitochondrial disorder, presenting milder respiratory and nutritional involvement than the previously reported cases, with possible additional features.
ISSN:0960-8966
1873-2364
DOI:10.1016/j.nmd.2023.06.004