Case report
A 5 years and 7 months old girl was admitted to Changsha Hospital for
maternal&Child Health care. The
clinical
features of the patient included
postnatal growth retardation, early teething, rapid tooth replacement,
dysplasia of dentition; wide eye spacing; generalized hirsutism; stubby
fingers; a distinctive facial appearance, low muscle tension of the
lower limbs and retarded intellectual development. Using whole-exome
high-throughput sequencing detection technology and whole-genome copy
number variation (CNV-seq) detection technology, using Berry Gene’s
Verita Trekker® variant site detection system and Enliven® variant site
annotation interpretation system Data is analyzed. One mutation of the
gene KMT2A was detected in the sample of the subject. It is suggested
that the c.2318dup mutation of gene KMT2A is a pathogenic mutation site
(Fig1.A), which causes changes in the open reading frame of the gene,
leading to changes in protein function; and the autosomal dominant
genetic disease Wiedemann-Steiner and it was judged to be pathogenic.
The clinical features consistent with the phenotype of this case are
intellectual disability, wide eye distance, and abnormal teeth.
Subsequently, the first-generation sequencing verification results
showed that the proband had a heterozygous mutation of c.2318dup in gene
KMT2A, and neither father nor mother had mutations. Genome copy number
variants (CNVs) of unexplained clinical significance above 100Kb were
detected in the sample of the subject:
seq[hg19]dup(11(q24.3q25)chr11:g.130420000_131280000dup11
chromosome q24.3-q25 repeated 0.86Mb region (Fig1.B). After querying
DGV, DECIPHER, OMIM, ClinGen, UCSC, gnomAD and PubMed public database
resources, no clear pathogenic information and literature reports
related to the fragment were found.