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 language | English |
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Pages (from-to) | 877-880 |
Number of pages | 4 |
Journal | Chinese Journal of Medical Genetics |
Volume | 39 |
Issue number | 8 |
DOIs | |
State | Published - 10 Aug 2022 |