New multiplex real-time PCR approach to detect gene mutations for spinal muscular atrophy

Liu, Zhi-Dai; Zhang, Penghui; He, Xiaoyan; Liu, Shan; Tang, Shi; Zhang, Rong; Wang, Xinbin; Tan, Junjie; Peng, Bin; Jiang, Li; Hong, Siqi; Zou, Lin

doi:10.1186/s12883-016-0651-y

Cited by 11 publications

(14 citation statements)

References 29 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…In this context, SMN locus genes need to be investigated in detail. SMA phenotype has also thought to been associated with NAIP, GTF2H2(p44) and SERF1(H4F5) gene variants located close to the SMN locus (Liu et al 2016). According to the literature, the SMN locus genes have been related to the severity of SMA (Jiang et al 2019).…”

Section: Discussionmentioning

confidence: 99%

“…The SMN1 gene is located adjacent to the neuronal apoptosis inhibitory protein (NAIP) gene and next to the NAIP the general transcription factor IIH, polypeptide 2 (GTF2H2) gene is located (Blatnik et al 2021). SERF1(H4F5), NAIP, and GTF2H2(p44) gene variations within the SMN locus have also been thought to contribute to the SMA phenotype (Liu et al 2016). One of the rst discovered mammalian apoptosis inhibitors (IAP), Neuronal Apoptosis Inhibitor Protein (NAIP), was cloned as a potential gene for SMA (Roy et al 1995) (Maier et al 2007).…”

Section: Introductionmentioning

confidence: 99%

See 1 more Smart Citation

Molecular Analysis of SMN2, NAIP and GTF2H2 Gene Deletions and Relation with Clinical Subtypes of Spinal Muscular Atrophy

Karasu

Acer

Akalın

et al. 2022

Preprint

View full text Add to dashboard Cite

SMA (spinal muscular atrophy) is an autosomal recessive neuromuscular disease that causes muscle atrophy and weakness. SMA is diagnosed by homozygous deletion in exon 7 of the SMN1 gene. However, mutations in other genes in the SMA region may contribute to the disease. These include SMN2, which is a pseudogene of SMN1, as well as NAIP and GTF2H2. Within the scope of our study, 58 SMA patients and 40 healthy controls were analyzed in 2018–2021. SMN1 and SMN2 copy numbers were retrospectively included in the study. NAIP gene analyzes were performed by multiplex PCR method and GTF2H2 analyzes were performed by RFLP method respectively. We detected a significant correlation between clinical subtypes (type 2 and type 3) and ambulation status (p = 0.003) and HFMSE scores (p = 0.0063) of 27 pediatric SMA patients compared with separately. Highly differences were determined between SMN2 copy numbers and the SMA subtypes (p = 0.00001). Also, the NAIP gene (p = 0,0095) and the GTF2H2 gene (p = 0,0049) revealed a significant difference between the healthy subjects and SMA subjects, whereas in the SMA subtypes indicated no significant difference. Our investigation is the first to examine the relationship between SMA clinical severity and SMN locus genes in the Turkish population. This small-scale study may be regarded as a pilot study, and it may pave the way for future research to better understand the molecular pathophysiology of SMA disease.

show abstract

Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Molecular Analysis of SMN2, NAIP and GTF2H2 Gene Deletions and Relation with Clinical Subtypes of Spinal Muscular Atrophy

Karasu

Acer

Akalın

et al. 2022

Preprint

View full text Add to dashboard Cite

show abstract

“…MLPA products were run on an ABI PRISM 3130 genetic analyzer (Applied Biosystems International Inc., California, USA). The evaluation criteria were based on the kit instructions: in normal individuals, SMN1 exon7 is 2 copies; the SMN1 gene of patients with homozygous deletion and carriers with heterozygous deletion is 0 copies and 1copy, respectively [ 12 , 13 ].…”

Section: Methodsmentioning

confidence: 99%

High-throughput screening reveals novel mutations in spinal muscular atrophy patients

Zhang

et al. 2020

Ital J Pediatr

View full text Add to dashboard Cite

Background Spinal muscular atrophy (SMA) is an autosomal recessive hereditary disease associated with severe muscle atrophy and weakness in the limbs and trunk. The discovery of mutated genes is helpful in diagnosis and treatment for SMA. Methods Eighty-three whole blood samples were collected from 28 core families of clinically suspected SMA, and multiplex ligation probe amplification (MLPA) was performed. Afterwards, the complete gene sequence of SMN1 gene was detected. Furthermore, 20 SMA patients were selected from the 28 probands, and 5 non SMA children as controls. The Life Technologies SOLiD™ technology with mate-pair chemistry was utilized to conduct the whole exome high-throughput sequencing. Results Twenty-two probands were SMA patients, 3 probands carriers, and 3 probands normal individuals. Moreover, 2 parents from 2 SMA families were with 3 SMN1 exon7 copies. Six SMN1 single nucleotide variants (SNVs) were identified in the 83 samples, and c.[84C > T], c.[271C > T], c.[−39A > G] and g.[70240639G > C] were novel. Compared with control group, 9102 mutation were selected out in SMA patients. SPTA1 mutation c.[−41_-40insCTCT], FUT5 SNV c.[1001A > G], and MCCC2 SNV c.[−117A > G] were the 3 most frequent mutations in SMA group (95, 85 and 75%, respectively). Conclusions We identified some mutations in both SMN1 and other genes, and c.[271C > T], c.[−41_-40insCTCT], c.[1001A > G] and c.[−117A > G] might be associated with the onset of SMA.

show abstract

Section: Mlpamentioning

confidence: 99%

High-throughput screening reveals novel mutations in spinal muscular atrophy patients

Zhang

et al. 2020

Preprint

View full text Add to dashboard Cite

Background Spinal muscular atrophy (SMA) is an autosomal recessive hereditary disease associated with severe muscle atrophy and weakness in the limbs and trunk. The discovery of genes mutated by SMA is helpful in diagnosis and treatment. Methods 83 whole blood samples were collected from 28 core families of clinically suspected SMA, and multiplex ligation probe amplification (MLPA) was firstly performed. Afterwards, the complete gene sequence of SMN1 gene was detected. Furthermore, 20 SMA patients were selected from the 28 probands, and 5 non SMA children as controls. The Life Technologies SOLiD™ technology with mate-pair chemistry was utilized to conduct the whole exome high-throughput sequencing. Results 22 probands were SMA patients, 3 probands carriers, and 3 probands normal individuals. Moreover, 2 parents from 2 SMA families were with 3 SMN1 exon7 copies. 6 SMN1 single nucleotide variants (SNVs) were identified in the 83 samples, and c.[84C>T], c.[271C>T], c.[-39A>G] and g.[70240639G>C] were novel. Compared with control group, 9102 mutation were selected out in SMA patients. SPTA1 mutation c.[-41_-40insCTCT], FUT5 SNV c.[1001A>G], and MCCC2 SNV c.[-117A>G] were the 3 most frequent mutations in SMA group (95%, 85% and 75%, respectively). Conclusions We identified some mutations in both SMN1 and other genes, and c.[271C>T], c.[-41_-40insCTCT], c.[1001A>G] and c.[-117A>G] might be associated with the onset of SMA.

show abstract

New multiplex real-time PCR approach to detect gene mutations for spinal muscular atrophy

Cited by 11 publications

References 29 publications

Molecular Analysis of SMN2, NAIP and GTF2H2 Gene Deletions and Relation with Clinical Subtypes of Spinal Muscular Atrophy

Molecular Analysis of SMN2, NAIP and GTF2H2 Gene Deletions and Relation with Clinical Subtypes of Spinal Muscular Atrophy

High-throughput screening reveals novel mutations in spinal muscular atrophy patients

High-throughput screening reveals novel mutations in spinal muscular atrophy patients

Contact Info

Product

Resources

About