ABSTRACT
BACKGROUND: Kabuki syndrome (KS) is a rare congenital condition with cardinal manifestations of typical facial features, developmental delays, skeletal anomalies, abnormal dermatoglyphic presentations, and mild to moderate intellectual disability. Pathogenic variants in two epigenetic modifier genes, KMT2D and KDM6A, are responsible for KS1 and KS2, respectively. CASE PRESENTATION: A Chinese girl had persistent neonatal hypoglycemia and Dandy-Walker variant. Whole-exome sequencing identified a novel single nucleotide deletion in KMT2D (NM_003482.3 c.12165del p.(Glu4056Serfs*10)) that caused frameshift and premature termination. The mutation was de novo. According to the American College of Medical Genetics and Genomics (ACMG) guidelines, this variant is considered pathogenic. The patient was diagnosed with KS by molecular testing. CONCLUSION: A single novel mutation in KMT2D was identified in a KS patients with hypoglycemia and Dandy-Walker variant in the neonatal stage. A molecular test was conducted to diagnose KS at an early stage.
Subject(s)
Abnormalities, Multiple/genetics , DNA-Binding Proteins/genetics , Dandy-Walker Syndrome/genetics , Face/abnormalities , Hematologic Diseases/genetics , Hypoglycemia/genetics , Neoplasm Proteins/genetics , Sequence Deletion , Vestibular Diseases/genetics , Abnormalities, Multiple/diagnosis , Base Sequence , Dandy-Walker Syndrome/diagnosis , Female , Genetic Testing , Hematologic Diseases/diagnosis , Humans , Hypoglycemia/diagnosis , Infant, Newborn , Sequence Homology, Nucleic Acid , Vestibular Diseases/diagnosis , Exome Sequencing/methodsABSTRACT
OBJECTIVE: To study the alkaloids of the Chinese medicinal herbs Daphniphyllum macropodum for in search for new bioactive substances. METHOD: The CHCl3 extract of D. macropodum was subjected to repeated column chromatography on silica gel to afford four pure compounds (1-4). Their structures were determined on the basis of detailed spectroscopic analysis and comparison with the data reported in the literature. RESULT: The four known compounds were isolated and elucidated as Daphniphyllum alkaloids with different carbon skeletons, namely longistylumphylline A (1), deoxycalyciphylline B (2), daphnicyclidin B (3) and H (4), respectively. CONCLUSION: All compounds were isolated from the titled plant for the first time. The discovery of daphnicyclidin B (3) and H (4) further confirmed the biogenetic relationship between the two compounds and the previously reported macropodumines A-C, found in the same plant.
