Patellar Dislocation in a Patient with Kabuki Syndrome with Severe Mental          Retardation: A Case Report

Kamada, Shin; Shiota, Etsuji; Yamashita, Toshiyuki; Kiyama, Takahiko; Sakamoto, Kazuhiko; Maeyama, Akira; Yamamoto, Takuya

doi:10.2490/prm.20190012

Cited by 1 publication

(1 citation statement)

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“…KS1 is characterized by several clinical manifestations including cardinal facial gestalts (long palpebral fissures, eversion of the lower lateral eyelids, arched eyebrows, depressed nasal tip, palate malformations, and large prominent ears), feeding difficulties, digital and hand anomalies, cardiovascular defects, skeletal and growth abnormalities, immune system dysregulation, anxiety and sleep difficulties, neonatal hypotonia, renal anomalies, and endocrine abnormalities (Adam et al, 2019; De Leon & Stanley, 2017; Niikawa et al, 1981; Rapp et al, 2022; Stagi et al, 2016; Yap et al, 2019). Other possible manifestations include orbital vascular malformations and cholestasis, cleft hand, epilepsy, microphthalmia, and pilomatricoma, among many others (Bernier et al, 2017; Bögershausen et al, 2016; Bruni et al, 2021; Huh et al, 2011; Kamada et al, 2019; McVeigh et al, 2015).…”

Section: Ks1 In the Clinicmentioning

confidence: 99%

Molecular insights of KMT2D and clinical aspects of Kabuki syndrome type 1

Golden

Williams

Serrano

2023

Birth Defects Research

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BackgroundKabuki syndrome type 1 (KS1), a rare multisystem congenital disorder, presents with characteristic facial features, intellectual disability, persistent fetal fingertip pads, skeletal abnormalities, and postnatal growth delays. KS1 results from pathogenic variants in the KMT2D gene, which encodes a histone methyltransferase protein involved in chromatin remodeling, promoter and enhancer regulation, and scaffold formation during early development. KMT2D also mediates cell signaling pathways, responding to external stimuli and organizing effector protein assembly. Research on KMT2D's molecular mechanisms in KS1 has primarily focused on its histone methyltransferase activity, leaving a gap in understanding the methyltransferase‐independent roles in KS1 clinical manifestations.MethodsThis scoping review examines KMT2D's role in gene expression regulation across various species, cell types, and contexts. We analyzed human pathogenic KMT2D variants using publicly available databases and compared them to research organism models of KS1. We also conducted a systematic search of healthcare and governmental databases for clinical trials, studies, and therapeutic approaches.ResultsOur review highlights KMT2D's critical roles beyond methyltransferase activity in diverse cellular contexts and conditions. We identified six distinct groups of KMT2D as a cell signaling mediator, including evidence of methyltransferase‐dependent and ‐independent activity. A comprehensive search of the literature, clinical databases, and public registries emphasizes the need for basic research on KMT2D's functional complexity and longitudinal studies of KS1 patients to establish objective outcome measurements for therapeutic development.ConclusionWe discuss how KMT2D's role in translating external cellular communication can partly explain the clinical heterogeneity observed in KS1 patients. Additionally, we summarize the current molecular diagnostic approaches and clinical trials targeting KS1. This review is a resource for patient advocacy groups, researchers, and physicians to support KS1 diagnosis and therapeutic development.

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