Tags

Type your tag names separated by a space and hit enter

[Association of copy number of SMN1 and SMN2 with clinical phenotypes in children with spinal muscular atrophy].
Zhongguo Dang Dai Er Ke Za Zhi 2019; 21(3):239-243ZD

Abstract

OBJECTIVE

To study the association of copy number of SMN1 and SMN2 with clinical phenotypes in children with spinal muscular atrophy (SMA).

METHODS

A total of 45 children with SMA were enrolled. Multiplex ligation-dependent probe amplification was used to measure the gene copy numbers of SMN1 and SMN2. The association of copy number of SMN1 and SMN2 with clinical phenotypes was analyzed.

RESULTS

Of the 45 children with SMA, 42 (93%) had a homozygous deletion of SMN1 exons 7 and 8, and 3 (7%) had a deletion of SMN1 exon 7 alone. No association was found between SMA clinical types and the deletion types of SMN1 exons 7 and 8 (P>0.05). There was a significant difference in the distribution of SMN2 gene copy numbers between the children with SMA and the healthy children (P<0.05). The children with SMA usually had two or three copies of SMN2 gene, while the healthy children usually had one or two copies of SMN2 gene. There was a significant difference in the distribution of SMN2 copy numbers among the children with different SMA clinical types (P<0.05). The children with two copies of SMN2 gene had a significantly lower age of onset than those with three or four copies. Most of the children with type I SMA had two or three copies of SMN2 gene. Most of the children with type II SMA had three copies of SMN2 gene. Most of the children with type III SMA had three or four copies of SMN2 gene. Children with a higher copy number of SMN2 gene tended to have an older age of onset and better motor function and clinical outcome, and there was a significant association between SMN2 gene copy number and clinical outcome (P<0.05).

CONCLUSIONS

The SMN2 gene can reduce the severity of SMA via the dosage compensation effect. SMN2 copy number is associated with the phenotype of SMA, and therefore, it can be used to predict disease severity.

Authors+Show Affiliations

Genetic Diagnosis Center, Affiliated Hospital of Kunming University of Science and Technology, Kunming 650032, China. erklili@sina.com.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article

Language

chi

PubMed ID

30907347

Citation

Zhang, Yin-Hong, et al. "[Association of Copy Number of SMN1 and SMN2 With Clinical Phenotypes in Children With Spinal Muscular Atrophy]." Zhongguo Dang Dai Er Ke Za Zhi = Chinese Journal of Contemporary Pediatrics, vol. 21, no. 3, 2019, pp. 239-243.
Zhang YH, Zhang YQ, Zhu BS, et al. [Association of copy number of SMN1 and SMN2 with clinical phenotypes in children with spinal muscular atrophy]. Zhongguo Dang Dai Er Ke Za Zhi. 2019;21(3):239-243.
Zhang, Y. H., Zhang, Y. Q., Zhu, B. S., He, J., Wang, L., Tang, X. H., ... Li, L. (2019). [Association of copy number of SMN1 and SMN2 with clinical phenotypes in children with spinal muscular atrophy]. Zhongguo Dang Dai Er Ke Za Zhi = Chinese Journal of Contemporary Pediatrics, 21(3), pp. 239-243.
Zhang YH, et al. [Association of Copy Number of SMN1 and SMN2 With Clinical Phenotypes in Children With Spinal Muscular Atrophy]. Zhongguo Dang Dai Er Ke Za Zhi. 2019;21(3):239-243. PubMed PMID: 30907347.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - [Association of copy number of SMN1 and SMN2 with clinical phenotypes in children with spinal muscular atrophy]. AU - Zhang,Yin-Hong, AU - Zhang,Yun-Qian, AU - Zhu,Bao-Sheng, AU - He,Jing, AU - Wang,Lei, AU - Tang,Xin-Hua, AU - Guo,Jing-Jing, AU - Jin,Chan-Chan, AU - Chen,Hong, AU - Zhang,Jie, AU - Zhang,Jin-Man, AU - Li,Li, PY - 2019/3/26/entrez PY - 2019/3/26/pubmed PY - 2019/4/4/medline SP - 239 EP - 243 JF - Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics JO - Zhongguo Dang Dai Er Ke Za Zhi VL - 21 IS - 3 N2 - OBJECTIVE: To study the association of copy number of SMN1 and SMN2 with clinical phenotypes in children with spinal muscular atrophy (SMA). METHODS: A total of 45 children with SMA were enrolled. Multiplex ligation-dependent probe amplification was used to measure the gene copy numbers of SMN1 and SMN2. The association of copy number of SMN1 and SMN2 with clinical phenotypes was analyzed. RESULTS: Of the 45 children with SMA, 42 (93%) had a homozygous deletion of SMN1 exons 7 and 8, and 3 (7%) had a deletion of SMN1 exon 7 alone. No association was found between SMA clinical types and the deletion types of SMN1 exons 7 and 8 (P>0.05). There was a significant difference in the distribution of SMN2 gene copy numbers between the children with SMA and the healthy children (P<0.05). The children with SMA usually had two or three copies of SMN2 gene, while the healthy children usually had one or two copies of SMN2 gene. There was a significant difference in the distribution of SMN2 copy numbers among the children with different SMA clinical types (P<0.05). The children with two copies of SMN2 gene had a significantly lower age of onset than those with three or four copies. Most of the children with type I SMA had two or three copies of SMN2 gene. Most of the children with type II SMA had three copies of SMN2 gene. Most of the children with type III SMA had three or four copies of SMN2 gene. Children with a higher copy number of SMN2 gene tended to have an older age of onset and better motor function and clinical outcome, and there was a significant association between SMN2 gene copy number and clinical outcome (P<0.05). CONCLUSIONS: The SMN2 gene can reduce the severity of SMA via the dosage compensation effect. SMN2 copy number is associated with the phenotype of SMA, and therefore, it can be used to predict disease severity. SN - 1008-8830 UR - https://www.unboundmedicine.com/medline/citation/30907347/[Association_of_copy_number_of_SMN1_and_SMN2_with_clinical_phenotypes_in_children_with_spinal_muscular_atrophy]_ L2 - http://www.zgddek.com/EN/abstract/abstract14730.shtml DB - PRIME DP - Unbound Medicine ER -