Beyond spinal muscular atrophy with lower extremity dominance: cerebellar hypoplasia associated with a novel mutation inBICD2

2016 ◽  
Vol 23 (4) ◽  
pp. e19-e21 ◽  
Author(s):  
C. Fiorillo ◽  
F. Moro ◽  
G. Brisca ◽  
A. Accogli ◽  
F. Trucco ◽  
...  
Keyword(s):  
Lower Extremity ◽  
Spinal Muscular Atrophy ◽  
Muscular Atrophy ◽  
Novel Mutation ◽  
Cerebellar Hypoplasia

scholarly journals Genomic analysis of a spinal muscular atrophy (SMA) discordant family identifies a novel mutation in TLL2, an activator of growth differentiation factor 8 (myostatin): a case report

2019 ◽  
Vol 20 (1) ◽  
Author(s):  
Jianping Jiang ◽  
Jinwei Huang ◽  
Jianlei Gu ◽  
Xiaoshu Cai ◽  
Hongyu Zhao ◽  
...  
Keyword(s):  
Spinal Muscular Atrophy ◽  
De Novo ◽  
Muscular Atrophy ◽  
Novel Mutation ◽  
Genomic Analysis ◽  
Neuromuscular Disorder ◽  
De Novo Mutation ◽  
Compound Heterozygous ◽  
Mice Model ◽  
Compound Heterozygous Mutations

Abstract Background Spinal muscular atrophy (SMA) is a rare neuromuscular disorder threating hundreds of thousands of lives worldwide. And the severity of SMA differs among different clinical types, which has been demonstrated to be modified by factors like SMN2, SERF1, NAIP, GTF2H2 and PLS3. However, the severities of many SMA cases, especially the cases within a family, often failed to be explained by these modifiers. Therefore, other modifiers are still waiting to be explored. Case presentation In this study, we presented a rare case of SMA discordant family with a mild SMA male patient and a severe SMA female patient. The two SMA cases fulfilled the diagnostic criteria defined by the International SMA Consortium. With whole exome sequencing, we confirmed the heterozygous deletion of exon7 at SMN1 on the parents’ genomes and the homozygous deletions on the two patients’ genomes. The MLPA results confirmed the deletions and indicated that all the family members carry two copies of SMN2, SERF1, NAIP and GTF2H2. Further genomic analysis identified compound heterozygous mutations at TLL2 on the male patient’s genome, and compound heterozygous mutations at VPS13A and the de novo mutation at AGAP5 on female patient’s genome. TLL2 is an activator of myostatin, which negatively regulates the growth of skeletal muscle tissue. Mutation in TLL2 has been proved to increase muscular function in mice model. VPS13A encodes proteins that control the cycling of proteins through the trans-Golgi network to endosomes, lysosomes and the plasma membrane. And AGAP5 was reported to have GTPase activator activity. Conclusions We reported a case of SMA discordant family and identified mutations at TLL2, VPS13A and AGAP5 on the patients’ genomes. The mutations at TLL2 were predicted to be pathogenic and are likely to alleviate the severity of the male SMA patient. Our finding broadens the spectrum of genetic modifiers of SMA and will contribute to accurate counseling of SMA affected patients and families.

A DYNC1H1 mutation causes a dominant spinal muscular atrophy with lower extremity predominance

Neurogenetics ◽  
2012 ◽  
Vol 13 (4) ◽  
pp. 327-332 ◽  
Author(s):  
Yoshinori Tsurusaki ◽  
Shinji Saitoh ◽  
Kazuhiro Tomizawa ◽  
Akira Sudo ◽  
Naoko Asahina ◽  
...  
Keyword(s):  
Lower Extremity ◽  
Spinal Muscular Atrophy ◽  
Muscular Atrophy

scholarly journals Exome Sequencing Identifies DYNC1H1 Variant Associated With Vertebral Abnormality and Spinal Muscular Atrophy With Lower Extremity Predominance

2015 ◽  
Vol 52 (2) ◽  
pp. 239-244 ◽  
Author(s):  
Jaya Punetha ◽  
Soledad Monges ◽  
Maria Emilia Franchi ◽  
Eric P. Hoffman ◽  
Sebahattin Cirak ◽  
...  
Keyword(s):  
Lower Extremity ◽  
Spinal Muscular Atrophy ◽  
Exome Sequencing ◽  
Muscular Atrophy

A novel mutation in VRK1 associated with distal spinal muscular atrophy

2019 ◽  
Vol 64 (3) ◽  
pp. 215-219 ◽  
Author(s):  
Nannan Li ◽  
Ling Wang ◽  
Xiaoyi Sun ◽  
Zhongjiao Lu ◽  
Xueling Suo ◽  
...  
Keyword(s):  
Spinal Muscular Atrophy ◽  
Muscular Atrophy ◽  
Novel Mutation

scholarly journals Dominant spinal muscular atrophy with lower extremity predominance: Linkage to 14q32

Neurology ◽  
2010 ◽  
Vol 75 (6) ◽  
pp. 539-546 ◽  
Author(s):  
M. B. Harms ◽  
P. Allred ◽  
R. Gardner ◽  
J. A. Fernandes Filho ◽  
J. Florence ◽  
...  
Keyword(s):  
Lower Extremity ◽  
Spinal Muscular Atrophy ◽  
Muscular Atrophy

scholarly journals Quantitative Evaluation of Lower Extremity Joint Contractures in Spinal Muscular Atrophy

2018 ◽  
Vol 30 (3) ◽  
pp. 209-215 ◽  
Author(s):  
Rachel Salazar ◽  
Jacqueline Montes ◽  
Sally Dunaway Young ◽  
Michael P. McDermott ◽  
William Martens ◽  
...  
Keyword(s):  
Lower Extremity ◽  
Spinal Muscular Atrophy ◽  
Quantitative Evaluation ◽  
Muscular Atrophy ◽  
Joint Contractures
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