Biallelic ASCC1 variants including a novel intronic variant result in expanded phenotypic spectrum of spinal muscular atrophy with congenital bone fractures 2 ( SMABF2 )

2021 ◽  
Author(s):  
Kristen K. Rosano ◽  
Daniel J. Wegner ◽  
Marwan Shinawi ◽  
Dustin Baldridge ◽  
Robert C. Bucelli ◽  
...  
Keyword(s):  
Spinal Muscular Atrophy ◽  
Bone Fractures ◽  
Muscular Atrophy ◽  
Phenotypic Spectrum

scholarly journals Mutations in Subunits of the Activating Signal Cointegrator 1 Complex Are Associated with Prenatal Spinal Muscular Atrophy and Congenital Bone Fractures

2016 ◽  
Vol 98 (3) ◽  
pp. 473-489 ◽  
Author(s):  
Ellen Knierim ◽  
Hiromi Hirata ◽  
Nicole I. Wolf ◽  
Susanne Morales-Gonzalez ◽  
Gudrun Schottmann ◽  
...  
Keyword(s):  
Spinal Muscular Atrophy ◽  
Bone Fractures ◽  
Muscular Atrophy

Neonatal spinal muscular atrophy with multiple contractures, bone fractures, respiratory insufficiency and 5q13 deletion

2004 ◽  
Vol 107 (5) ◽  
pp. 475-478 ◽  
Author(s):  
M. A. Garc�a-Cabezas ◽  
A. Garc�a-Alix ◽  
Y. Mart�n ◽  
M. Guti�rrez ◽  
C. Hern�ndez ◽  
...  
Keyword(s):  
Spinal Muscular Atrophy ◽  
Respiratory Insufficiency ◽  
Bone Fractures ◽  
Muscular Atrophy

scholarly journals Congenital Bone Fractures in Spinal Muscular Atrophy: Functional Role for SMN Protein in Bone Remodeling

2007 ◽  
Vol 22 (8) ◽  
pp. 967-973 ◽  
Author(s):  
Srinivasan Shanmugarajan ◽  
Kathryn J. Swoboda ◽  
Susan T. Iannaccone ◽  
William L. Ries ◽  
Bernard L. Maria ◽  
...  
Keyword(s):  
Spinal Muscular Atrophy ◽  
Bone Remodeling ◽  
Functional Role ◽  
Bone Fractures ◽  
Muscular Atrophy ◽  
Smn Protein

Spinal Muscular Atrophy with Respiratory Distress Type 1 (SMARD1): Are We Diagnosing Yet?

2021 ◽  
Author(s):  
Chaithanya Reddy ◽  
Pradip Paria ◽  
Debajyoti Chatterjee ◽  
Arushi G. Saini ◽  
Renu Suthar ◽  
...  
Keyword(s):  
Respiratory Distress ◽  
Spinal Muscular Atrophy ◽  
Selection Criteria ◽  
Muscular Atrophy ◽  
Binding Protein ◽  
Interesting Case ◽  
Pathogenic Variants ◽  
Phenotypic Spectrum

AbstractThe spectrum of disorders associated with the IGHMBP2 (immunoglobulin μ-binding protein 2) gene pathogenic variants is still unknown. We discuss here an interesting case of genetically confirmed spinal muscular atrophy with respiratory distress type 1 (SMARD1) with atypical sparing of the diaphragm, thus expanding the phenotypic spectrum of this intriguing disorder and also highlight the importance of reconsidering the selection criteria for considering IGHMBP2 pathogenic variants.

Neonatal Spinal Muscular Atrophy Type 1 With Bone Fractures and Heart Defect

2007 ◽  
Vol 22 (1) ◽  
pp. 67-70 ◽  
Author(s):  
Eve Vaidla ◽  
Inga Talvik ◽  
Andres Kulla ◽  
Hiljar Sibul ◽  
Katre Maasalu ◽  
...  
Keyword(s):  
Spinal Muscular Atrophy ◽  
Bone Fractures ◽  
Muscular Atrophy ◽  
Spinal Muscular Atrophy Type ◽  
Heart Defect

scholarly journals The First Orally Deliverable Small Molecule for the Treatment of Spinal Muscular Atrophy

2020 ◽  
Vol 15 ◽  
pp. 263310552097398
Author(s):  
Ravindra N Singh ◽  
Eric W Ottesen ◽  
Natalia N Singh
Keyword(s):  
Spinal Muscular Atrophy ◽  
Small Molecule ◽  
Muscular Atrophy ◽  
Survival Motor Neuron ◽  
Smn1 Gene ◽  
The Third ◽  
Splicing Silencer ◽  
Phenotypic Spectrum ◽  
Low Levels ◽  
Smn Protein

Spinal muscular atrophy (SMA) is 1 of the leading causes of infant mortality. SMA is mostly caused by low levels of Survival Motor Neuron (SMN) protein due to deletion of or mutation in the SMN1 gene. Its nearly identical copy, SMN2, fails to compensate for the loss of SMN1 due to predominant skipping of exon 7. Correction of SMN2 exon 7 splicing by an antisense oligonucleotide (ASO), nusinersen (Spinraza™), that targets the intronic splicing silencer N1 (ISS-N1) became the first approved therapy for SMA. Restoration of SMN levels using gene therapy was the next. Very recently, an orally deliverable small molecule, risdiplam (Evrysdi™), became the third approved therapy for SMA. Here we discuss how these therapies are positioned to meet the needs of the broad phenotypic spectrum of SMA patients.

scholarly journals Exome reanalysis and proteomic profiling identified TRIP4 as a novel cause of cerebellar hypoplasia and spinal muscular atrophy (PCH1)

2021 ◽  
Author(s):  
Ana Töpf ◽  
◽  
Angela Pyle ◽  
Helen Griffin ◽  
Leslie Matalonga ◽  
...  
Keyword(s):  
Spinal Muscular Atrophy ◽  
Rna Processing ◽  
Bone Fractures ◽  
Muscular Atrophy ◽  
Congenital Muscular Dystrophy ◽  
Severe Form ◽  
Sequencing Analysis ◽  
Cerebellar Hypoplasia ◽  
Proteomic Profiling ◽  
Transcriptional Coregulator

AbstractTRIP4 is one of the subunits of the transcriptional coregulator ASC-1, a ribonucleoprotein complex that participates in transcriptional coactivation and RNA processing events. Recessive variants in the TRIP4 gene have been associated with spinal muscular atrophy with bone fractures as well as a severe form of congenital muscular dystrophy. Here we present the diagnostic journey of a patient with cerebellar hypoplasia and spinal muscular atrophy (PCH1) and congenital bone fractures. Initial exome sequencing analysis revealed no candidate variants. Reanalysis of the exome data by inclusion in the Solve-RD project resulted in the identification of a homozygous stop-gain variant in the TRIP4 gene, previously reported as disease-causing. This highlights the importance of analysis reiteration and improved and updated bioinformatic pipelines. Proteomic profile of the patient’s fibroblasts showed altered RNA-processing and impaired exosome activity supporting the pathogenicity of the detected variant. In addition, we identified a novel genetic form of PCH1, further strengthening the link of this characteristic phenotype with altered RNA metabolism.

The Genotypic and Phenotypic Spectrum of BICD2 Variants in Spinal Muscular Atrophy

2020 ◽  
Vol 87 (4) ◽  
pp. 487-496 ◽  
Author(s):  
Daniel C. Koboldt ◽  
Megan A. Waldrop ◽  
Richard K. Wilson ◽  
Kevin M. Flanigan
Keyword(s):  
Spinal Muscular Atrophy ◽  
Muscular Atrophy ◽  
Phenotypic Spectrum
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