Genetic analysis of a case of infant spinal muscular atrophy type 1c
10.3760/cma.j.cn101721-20220509-000179
- VernacularTitle:婴儿脊髓性肌萎缩症1c型1例的遗传学分析
- Author:
Yuping LIU
1
;
Meng SUN
;
Ran ZHOU
;
Jiangya WANG
;
Dandan WANG
;
Mengmeng LI
;
Yaying CHENG
Author Information
1. 河北省人民医院儿科，石家庄 050051
- Keywords:
Spinal muscular atrophy;
SMN gene;
Gene conversion
- From:
Clinical Medicine of China
2022;38(6):554-558
- CountryChina
- Language:Chinese
-
Abstract:
Objective:To summarize the genetic characteristics of a case of spinal muscular atrophy type 1c.Methods:The case data of a child with spinal muscular atrophy type 1c was retrospectively analyzed, and the genetic analysis and literature review were carried out.Results:The patient, male, started at the age of 2 months, and showed gross motor development backwardness and low muscular tension. Multiplex connection probe amplification technique showed that the child had homozygous deletion mutation in exon 7-8 of SMN1 gene, and there was duplicate mutation in exon 7-8 of SMN2 gene. The number of copies of exon 7/8 was 3/3. His father was a heterozygous deletion carrier of SMN1 gene, and there was homozygous mutation in exon 8 of SMN2 gene. The number of copies of exon 7/8 was 2/3. His mother did not find abnormal exons of SMN1 gene, and the number of copies of exon 7/8 of SMN2 gene was 1/1.Conclusion:Spinal muscular atrophy lacks specific manifestations in the early stage, and the diagnosis mainly depends on genetic testing. Clinicians need to be vigilant, strengthen the early understanding of the disease, and improve the prognosis.
