Lysosomal trafficking regulator gene c.421C>T homozygous mutation causes adult Chediak- Higashi syndrome: one case report / 中华神经科杂志

ABSTRACT

The mutation of lysosomal trafficking regulator (LYST) gene and the clinical data of an adult patient who showed an abnormal gait with Chediak-Higashi syndrome were analyzed retrospectively. The whole exon sequencing was applied, and Sanger sequencing was used to verify the results. All members of the family were genetically verified for the same mutation site. The sequencing revealed the presence of c.421C>T(p.Arg141 *) mutation in LYST gene in the proband, which was inherited from his parents. The mutation was found in the homozygous state for the proband, both his parents being heterozygous for the same mutation. This mutation type was not reported in the human gene mutation database. According to the American Society of Medical Genetics and Genomic Society′s guide to the interpretation of genetic variation, the mutation of c.421C>T was identified to be pathogenic.