Genetic analysis for a child with comorbid X-linked ichthyosis and Duchenne muscular dystrophy

Chuan Zhang, Shengjun Hao, Ling Hui, Xuan Feng, Xue Chen, Xing Wang, Lei Zheng, Furong Liu, Bingbo Zhou, Qinghua Zhang

Research output: Contribution to journalArticlepeer-review

Abstract

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.

Original languageEnglish
Pages (from-to)877-880
Number of pages4
JournalChinese Journal of Medical Genetics
Volume39
Issue number8
DOIs
StatePublished - 10 Aug 2022

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