A Novel KMT2D Variant Causing Kabuki Syndrome
ZHANG Dan-li
SHI Xue-dong
LI Jian-lei
ZHOU Li-fei
WANG Wen-yi
ZHANG Ping-ping
LI Ya-li
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.
Keywords：Kabuki syndromeKMT2D geneFrameshift mutationTherapyCase reports
Publication Date：2024-11-15
Online Publishing Date：2025-08-15(First online date of this platform, not the publication date of the document)
Pages：4( 471-474 )