Transmission characteristics of SMN from 227 spinal muscular atrophy core families in China

Cao, Yanyan; Qu, Yue; Bai, Jianling; Cheng, Miaomiao; Jin, Yue; Wang, Hong; Song, Fang

doi:10.1038/s10038-020-0730-1

Cited by 3 publications

(4 citation statements)

References 14 publications

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“…Besides, current data illustrated that the variation of SMN copy number passed through inheritance; thus, the SMA severity could be predicted from the parents' generation to some extent. Correspondingly, the mentioned study has supported the same by assessing two generations of Japanese families (Cao et al, 2020). However, in the current study, the negative correlation between SMN1 and SMN2 copy numbers seemed to be less linear, indicating there might be individuals with two or more SMN2 copies in one allele, or it has occurred due to the genetic structure varieties throughout ethnicities.…”

Section: Discussionsupporting

confidence: 72%

“…Therefore, in the case of SMN copies, there was consistency between patients and their parents regardless of SMA type. In research conducted by Cao, Y. et al data showed that in 27 PKU core families, the distribution of both the copy number of SMN1 and SMN2 had no signi cant difference between the PKU children and their parents (P = 0.607 for SMN1 and P = 0.326 for SMN2) (Cao et al, 2020). Their result indicated that there is a positive correlation between patients and their parents in case of both SMN1 and SMN2 copy numbers (Spearman = 0.75 P < 0.001 for SMN1; Spearman = 0.696, P < 0.001 for SMN2).…”

Section: Discussionmentioning

confidence: 93%

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Copy number analysis in a large-scale study of spinal muscular atrophy patients between two continuous generations in Iran

Shakerian

Shariati

anaie³

et al. 2022

Preprint

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Background:Spinal muscular atrophy (SMA) is a rare autosomal recessive inherited neuromuscular disease with about 1:6000 to 1:10,000 in newborns. Objectives:To evaluate the copy number variation of SMN1 and SMN2 genes between two generations, we experimented on 221 core families, including 221 patients and their parents (n=442). Materials & methods: Before sample collection, all cases were subjected to clinical diagnosis, electromyography, and nerve conduction velocity test. Moreover, DNA samples were analyzed by multiplex ligation-dependent probe amplification. Results: In this study, 92.7% of patients' SMN1 deletions were homozygous, whereas 7.3% of the SMN1 deletions were heterozygous. On the other hand, 92.9% of the parents had one copy of SMN1, and the remaining had two copies of SMN1. Since SMN2 has a disease-modifying role, accurate determination of SMN2 copy number can be helpful in the case of prognosis and genotype-phenotype correlation. The average SMN copies from parents represent the copy number in the parent's generation. Evaluations showed a negative correlation between the copy number of SMN1 and SMN2in children and their parents. Besides, when the average of SMN2 copy numbers was two in the parent's generation, 81% of the children were type I, and the rest were Type II/III. Also, in cases with three or more SMN2copy numbers in parents, approximately 90% of children were either type II or III. Conclusion: Accordingly, there is a possibility that the SMN2 copy numbers in parents could predict the disease severity in the next generation.

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Section: Discussionsupporting

confidence: 72%

Section: Discussionmentioning

confidence: 93%

Copy number analysis in a large-scale study of spinal muscular atrophy patients between two continuous generations in Iran

Shakerian

Shariati

anaie³

et al. 2022

Preprint

View full text Add to dashboard Cite

show abstract

“…In addition, a recent study reported that the copy number of SMN genes may determine the pathological type of SMA patients. Cao et al [ 11 ] found that in different copy numbers of SMN2 , the distribution of type I and type 2/3 was significantly different ( P < 0.001): when the copy number of SMN2 in parents was 1, 75% of SMA progenies were type 1 and 25% were type 2/3. However, when the parents carried three copies of SMN2 , their SMA progenies were all 2/3 type.…”

Section: Introductionmentioning

confidence: 99%

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

Zhang

et al. 2020

Ital J Pediatr

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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.

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“…In addition, a recent study reported that the copy number of SMN genes may determine the pathological type of SMA patients. Cao et al [11] found that in different copy numbers of SMN2, the distribution of type I and type 2/3 was signi cantly different (P < 0.001): when the copy number of SMN2 in parents was 1, 75% of SMA progenies were type 1 and 25% were type 2/3. However, when the parents carried three copies of SMN2, their SMA progenies were all 2/3 type.…”

Section: Introductionmentioning

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 mutated genes is helpful in diagnosis and treatment for SMA. Methods: 83 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: 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.

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Transmission characteristics of SMN from 227 spinal muscular atrophy core families in China

Cited by 3 publications

References 14 publications

Copy number analysis in a large-scale study of spinal muscular atrophy patients between two continuous generations in Iran

Copy number analysis in a large-scale study of spinal muscular atrophy patients between two continuous generations in Iran

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

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

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