Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics · 2019
[Genetic analysis of a pedigree affected with X-linked adrenoleukodystrophy].
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Pan Qinqing, Zheng Xiaosheng, Cen Zhidong, Luo Wei
Аннотация
OBJECTIVE: To explore the genetic basis for a pedigree affected with X-linked adrenoleukodystrophy presenting as spastic paraplegia of the lower limbs.
METHODS: Genomic DNA was extracted from peripheral blood samples of the patient and his mother. Potential variant was detected with a panel for genes associated with spastic paraplegia. Candidate variant was verified by PCR and Sanger sequencing.
RESULTS: Both the proband and his mother presented with walking difficulty. A previously known variant, c.623T to A (p.V208E), was identified in the ABCD1 gene mapped on chromosome X in both.
CONCLUSION: X-link adrenoleukodystrophy should be taken into account as a possible diagnosis for this pedigree.
METHODS: Genomic DNA was extracted from peripheral blood samples of the patient and his mother. Potential variant was detected with a panel for genes associated with spastic paraplegia. Candidate variant was verified by PCR and Sanger sequencing.
RESULTS: Both the proband and his mother presented with walking difficulty. A previously known variant, c.623T to A (p.V208E), was identified in the ABCD1 gene mapped on chromosome X in both.
CONCLUSION: X-link adrenoleukodystrophy should be taken into account as a possible diagnosis for this pedigree.