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Severe Glomerular Endothelial Injury Associated with a Short D4Z4 Repeat on Chromosome 4q35

Internal Medicine, 2017
The short D4Z4 repeat on chromosome 4q35 is a confirmatory genetic cause of facioscapulohumeral muscular dystrophy (FSHD), which presents with no renal complications. We herein report a five-year-old girl previously diagnosed with Coat's-like retinopathy, deafness, and mental retardation, who was found to have early-onset, severe FSHD.
Osamu Uemura, Ichizo Nishino, Kazuki Tanaka   +2 more
exaly   +4 more sources

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Hypomethylation of D4Z4 in 4q-linked and non-4q-linked facioscapulohumeral muscular dystrophy

Nature Genetics, 2003
The autosomal dominant myopathy facioscapulohumeral muscular dystrophy (FSHD1, OMIM 158900) is caused by contraction of the D4Z4 repeat array on 4qter. We show that this contraction causes marked hypomethylation of the contracted D4Z4 allele in individuals with FSHD1.
Silvere Van Der Maarel, George W Padberg, Sara T Winokur   +2 more
exaly   +4 more sources

Molecular combing compared to Southern blot for measuring D4Z4 contractions in FSHD

Neuromuscular Disorders, 2015
We compare molecular combing to Southern blot in the analysis of the facioscapulohumeral muscular dystrophy type 1 locus (FSHD1) on chromosome 4q35-qter (chr 4q) in genomic DNA specimens sent to a clinical laboratory for FSHD testing. A de-identified set of 87 genomic DNA specimens determined by Southern blot as normal (n = 71), abnormal with D4Z4 ...
Jessica, Vasale, Fatih, Boyar, Michael, Jocson, Vladimira, Sulcova, Patricia, Chan, Khalida, Liaquat, Carol, Hoffman, Marc, Meservey, Isabell, Chang, David, Tsao, Kerri, Hensley, Yan, Liu, Renius, Owen, Corey, Braastad, Weimin, Sun, Pierre, Walrafen, Jun, Komatsu, Jia-Chi, Wang, Aaron, Bensimon, Arturo, Anguiano, Malgorzata, Jaremko, Zhenyuan, Wang, Sat, Batish, Charles, Strom, Joseph, Higgins   +24 more
openaire   +2 more sources

Novel mitochondrial tRNALeu(CUN) transition and D4Z4 partial deletion in a patient with a facioscapulohumeral phenotype

Neuromuscular Disorders, 2008
Point mutations in mtDNA-encoded tRNA genes frequently cause isolated myopathies but rarely cause the facioscapulohumeral phenotype. We report on a patient affected with chronic progressive weakness of facioscapulohumeral/peroneal muscles whose muscle biopsy showed a mitochondrial myopathy.
Filosto M, Tonin P, Scarpelli M, Savio C, GRECO, Francesca, Mancuso M, Vattemi G, Govoni V, Rizzuto N, TUPLER, Rossella, Tomelleri G.   +10 more
openaire   +2 more sources

Preimplantation genetic testing for facioscapulohumeral dystrophy caused by contractions of 4q35 D4Z4 repeats

Reproductive BioMedicine Online
Preimplantation genetic testing for monogenic diseases (PGT-M) is based on mutation testing combined with linkage analysis; so, how should PGT-M for patients with facioscapulohumeral dystrophy type 1 (FSHD1) be conducted when direct mutation testing is unavailable and specific linked markers are lacking?Patients with a definite FSHD1 diagnosis who ...
Xiao Hu, Weili Wang, Dehua Cheng, Yifan Gu, Zhenxing Wan, Jing Dai, Yi Zhang, Keli Luo, Wen Li, Qianjun Zhang, Fei Gong, Guangxiu Lu, Yue-Qiu Tan, Ge Lin, Juan Du   +14 more
openaire   +2 more sources

D4Z4-pathies: Evidence from the Italian National Registry for FSHD

Journal of the Neurological Sciences, 2021
Cinzia Bettio, Cecilia Ruini, Giulia Ricci, Lucia Ruggiero, Valentina Salsi, Floriana Napoli, Francesco Sera, Rossella Tupler   +7 more
openaire   +1 more source

D4Z4 Methylation Levels Combined with a Machine Learning Pipeline Highlight Single CpG Sites as Discriminating Biomarkers for FSHD Patients

Cells, 2022
Juliette Giménez, Valerio Caputo, Carlo Fabrizio   +2 more
exaly  

Identification of the Epigenetic Modifier of the D4Z4 Epiallele in FSHD2 (S05.001)

Neurology, 2013
Sabrina Sacconi, Richard Lemmers, Rabi Tawil, George Padberg, Claude Desnuelle, Stephen Tapscott, Daniel Miller, Silvère van der Maarel   +7 more
openaire   +1 more source

D4Z4 binding element transcript ( DBE-T )

Science-Business eXchange, 2012
openaire   +1 more source

The Subtelomeric D4Z4 Repeat Instability in Facioscapulohumeral Muscular Dystrophy

2006
SILVÉRE M. VAN DER MAAREL, RUNE R. FRANTS, GEORGE W. PADBERG   +2 more
openaire   +1 more source