BACKGROUND
Kabuki syndrome (KS) is a rare syndrome characterized by multisystem congenital anomalies and developmental disorder.
KMT2D
and
KDM6A
mutations were identified as the main causative genes in KS patients. There are few case reports and genetic analyses, especially of
KDM6A
gene mutation, in China.
CASE SUMMARY
This study reports a
de novo KDM6A
mutation in a Chinese infant with KS. A 2-month-old Chinese baby was diagnosed with KS, which manifested as hypoglycemia, congenital anal atresia at birth, feeding difficulties, hypotonia, and serious postnatal growth retardation. He died of recurrent respiratory infections at age 13 mo. DNA sequencing of his blood DNA revealed a novel
KDM6A
frameshift mutation (c.704_705delAG, p. N236Sfs*26) (GRCh37/hg19).
CONCLUSION
We present a Chinese KS patient with a novel
KDM6A
frameshift mutation (c.704_705delAG, p. N236Sfs*26) (GRCh37/hg19), broadening the mutation spectrum.