Abstract:

Kabuki syndrome (KS) is a rare multi-phylogenetic disorder that often occurs in childhood. A case of a child with mental retardation and developmental delay was reported. Whole exome sequencing was performed to detect the related pathogenic genes, and Sanger DNA sequencing was performed in family members. Frameshift mutation, c.6752delC (p.S2251Cfs*13) in the KMT2D gene, was found in the child. The search in databases such as ClinVar and human gene mutation database (HGMD) did not find any record of this mutation site, and the parents did not carry the mutation, suggesting that this is a new pathogenic mutation. The results of genetic testing indicated that the case was a KS type Ⅰ caused by a new mutation of KMT2D gene, which expanded the KMT2D gene mutation profile, and enriched the clinical data of KS. It is important to conduct genetic counseling for KS families.

Key words: Kabuki syndrome, KMT2D gene, Frameshift mutation, Therapy, Case reports