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

Abstract

To carry out pedigree analysis for a rare child with comorbid X-linked ichthyosis (XLI) and Duchenne muscular dystrophy (DMD). Whole exome sequencing (WES) and multiple ligation-dependent probe amplification (MLPA) were used to detect potential deletions in the STS and DMD genes. The proband was found to harbor hemizygous deletion of the STS gene and exons 48 to 54 of the DMD gene. The child has comorbid XLI and DMD, which is extremely rare.