Genetic analysis of a new mutation in the ATL1 gene of an inherited spastic paraplegia type 3A family
Objective To analyze the ATL1 gene variation in a family with hereditary spastic paraplegia type 3A,so as to provide basis for prenatal diagnosis and gene counseling.Methods DNA was extracted from venous blood samples of children and their families.Whole exon sequencing technique was used to detect the gene and analyze the pathogenicity of the variation sites.The family members and suspected pathogenicity sites were verified by intra-family Sanger.Results There were 2 patients in the three generations of pedigrees,the proband was 4 years old,and the clinical manifestations were spastic paraplegia with motor retardation and increased muscle tone.The mother of the proband had similar clinical manifestations,and the other members had no obvious abnormality.The proband detected the heterozygous variation of ATL1 gene c.756C＞G,and the associated disease was autosomal dominant spastic paraplegia type 3.It was verified by the pedigree that his mother carried the mutation,and her grandfather,grandmother,father and uncle were normal.Conclusion The clinical characteristics and ATL1 gene mutation of children and mothers are consistent with the typical 3 A characteristics of simple hereditary spastic paraplegia.The heterozygous variation of ATL1 gene mutation site c.756C＞G may be pathogenic variation.The discovery of new variation provides a basis for gene variation spectrum and prenatal diagnosis.
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