Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics · 2022
[Genetic analysis for a child with comorbid X-linked ichthyosis and Duchenne muscular dystrophy].
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Zhang Chuan, Hao Shengjun, Hui Ling, Feng Xuan, Chen Xue, Wang Xing, Zheng Lei, Liu Furong, Zhou Bingbo, Zhang Qinghua
Аннотация
OBJECTIVE: To carry out pedigree analysis for a rare child with comorbid X-linked ichthyosis (XLI) and Duchenne muscular dystrophy (DMD).
METHODS: Whole exome sequencing (WES) and multiple ligation-dependent probe amplification (MLPA) were used to detect potential deletions in the STS and DMD genes.
RESULTS: The proband was found to harbor hemizygous deletion of the STS gene and exons 48 to 54 of the DMD gene.
CONCLUSION: The child has comorbid XLI and DMD, which is extremely rare.
METHODS: Whole exome sequencing (WES) and multiple ligation-dependent probe amplification (MLPA) were used to detect potential deletions in the STS and DMD genes.
RESULTS: The proband was found to harbor hemizygous deletion of the STS gene and exons 48 to 54 of the DMD gene.
CONCLUSION: The child has comorbid XLI and DMD, which is extremely rare.