Background: Kabuki syndrome (KS) is a rare syndrome characterized by multisystem congenital anomalies and developmental disorder. and mutations were identified as the main causative genes in KS patients. There are few case reports and genetic analyses, especially of gene mutation, in China.
Case Summary: This study reports a 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 frameshift mutation (c.704_705delAG, p. N236Sfs*26) (GRCh37/hg19).
Conclusion: We present a Chinese KS patient with a novel frameshift mutation (c.704_705delAG, p. N236Sfs*26) (GRCh37/hg19), broadening the mutation spectrum.
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| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8638061 | PMC |
| http://dx.doi.org/10.12998/wjcc.v9.i33.10257 | DOI Listing |
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