Diagnosis and treatment of Kabuki syndrome and its recent progress in molecular mechanisms

Abstract

Kabuki syndrome(KS), also called kabuki make-up syndrome, is characterized by backward growth retardation, skeletal developmental delay, major facial dysmorphic features, multi-organ abnormalities and abnormal dermatoglyphic pattern and mild or moderate mental retardation.For the molecular genetic pathogenesis of KS, KTM2D and KDM6A gene mutations have been identified as pathogenic genes of KS, which regulate the gene expression through chromatin remodelling and histone modification.At present, the etiology and pathogenesis of KS are still unknown.There is no useful biochemical index and standard radiographic findings for the diagnosis of KS.Molecular genetic diagnosis is still to be explored.Currently, the diagnosis of KS is mainly based on five cardinal manifestations: a peculiar face, skeletal anomalies, dermatoglyphic abnormalities, mild to moderate mental retardation and postnatal growth deficiency.For these patients, it can reach a better prognosis the by clinical early detection, early diagnosis, early intervention, as well as improving the growth level, symptomatic treatment, active prevention and treatment of complications as far as possible. Key words: Kabuki syndrome; KMT2D; KDM6A; Multiple malformation