Kabuki Syndrome

Dugan, Sarah

doi:10.1002/9781119432692.ch34

Cited by 2 publications

(2 citation statements)

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“…However, molecular confirmation of KMT2D pathogenic variants is essential to distinguish KS1 from other similarly presenting developmental disorders, such as CHARGE syndrome (Kasdon & Fox, 2012). For a more comprehensive review of KS clinical features, see Adam et al, Dugan, and Barry et al (Adam et al, 2019; Barry et al, 2022; Dugan, 2021).…”

Section: Ks1 In the Clinicmentioning

confidence: 99%

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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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Section: Ks1 In the Clinicmentioning

confidence: 99%

“…Kabuki syndrome (KS, Kabuki Make‐Up Syndrome, Niikawa‐Kuroki Syndrome) is a rare genetic disorder with an estimated incidence of 1 in 32,000 (Adam et al, 2019; Dugan, 2021). KS was first diagnosed independently by Norio Niikawa and Yoshikazu Kuroki in 1981 (Kuroki et al, 1981; Niikawa et al, 1981).…”

Section: Introductionmentioning

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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Case report: Kabuki syndrome and persistent hypoglycemia in neonates

Safdar,

Abddulghfar,

Saaty

et al. 2024

Journal of Family Medicine and Primary Care

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The Kabuki syndrome (KS) is a rare congenital disease that has two different types, KS1 and KS2, with variant in epigenetic gene KMT2D and KDM6A, respectively. It is associated with multiple abnormalities such as (developmental delay, atypical facial features, cardiac anomalies, minor skeleton anomalies, genitourinary anomalies, and mild to moderate intellectual disability). This syndrome can lead to neonatal hypoglycemia that results from hyperinsulinemia and electrolyte abnormalities. We described 18-month-old Egyptian girl with Kabuki syndrome type 2 presented with persistent hypoglycemia since birth and accompanied by an abnormality in urine concentration, and blood gases showed academia. She was treated medically. The diagnosis was made at the age of five months. Growth failure and developmental delay were noted during the patient’s growth. We found that KS2 with heterozygous gene mutation KDM6A, which had related with severe hypoglycemia in neonates. Mostly due to congenital hyperinsulinism for further investigations. We aim to increase the awareness of different genetic diseases that are related to neonatal hypoglycemia and early recognition and treatment to prevent the neurodevelopmental complication and improve the outcome.

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Kabuki Syndrome

Cited by 2 publications

References 46 publications

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

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

Case report: Kabuki syndrome and persistent hypoglycemia in neonates

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