Resources for Researchers

The resources below are provided to accelerate your research. We strive to update this page as new resources become available.

GENETIC INFORMATION

• Kabuki syndrome 1 (OMIM ID: 147920)
• KMT2D (OMIM ID: 602113)
• Review of KMT family of proteins with a focus on KMT2D
• Kabuki syndrome 2 (OMIM ID: 300867)
• KDM6A (OMIM ID: 300128)
• Review of KDM6A

EPIGENETIC INFORMATION

• The defining DNA methylation signature of Kabuki syndrome enables functional assessment of genetic variants of unknown clinical significance. (2017) 
• CHARGE and Kabuki Syndromes: Gene-Specific DNA Methylation Signatures Identify Epigenetic Mechanisms Linking These Clinically Overlapping Conditions (2017)
• EpigenCentral

PATIENT TISSUES 

• The KSF COMBINEDBrain biorepository (contact Clara Tang, KSF)
• Kabuki syndrome Biobank in Italy (contact Giuseppe Merla)
• Biobank, KMT2D and KDM6A iPSCs at Boston Children’s Hospital through the Roya Kabuki Program (contact kabuki@childrens.harvard.edu)
• Skin fibroblasts at Kennedy Krieger Institute (contact Clara Tang)

IN VITRO MODELS 

• KSF-supported iPSC cell lines – Catalog and Request Form
• Human cortical brain organoids – contact Jamy Peng

IN VIVO MODELS 

• Kmt2d+/βGeo mouse (reference) – InnoSer or contact Clara Tang
  • Primary cultures from this mouse model are also available
• Kmt2d mouse model with missense mutation – contact Hans Björnsson
  • Primary cultures from this mouse model are also available
• Kmt2d conditional knockout mouse #1 Kmt2dtm1.1Kaig/J (reference) – Jackson Lab or contact Kai Ge
• Kmt2d conditional knockout mouse #2 Mll4SETflox (reference) – contact Kai Ge
  • Embryonic stem cells from this mouse model are also available
• Kmt2d enzyme-dead knockin mouse Mll4KI/+ (reference) – contact Kai Ge
• Kdm6A enzyme-dead knockin mouse UTXKI/+ (reference) – contact Kai Ge
• Kdm6A conditional knockout mouse Kdm6atm1.1Kaig/J (reference) – Jackson Lab or contact Kai Ge
• MMRRC repository
• Zebrafish kmt2d zy59 – Yost Lab

REAGENTS

• KMT2D Western blot protocol (reference) – contact Kai Ge
• KMT2D antibody (side-by-side Western blot comparison courtesy of Hieu Van, Kai Ge Lab, NIH):
  • Proteintech #27266-1-AP – also works well for ChIP-seq in embryonic stem cells
  • Invitrogen #PA5-1155799
  • Sigma #HPA035977
• KDM6A antibody:
  • UTX (D3Q1I) Rabbit mAb #33510
  • GeneTex, GTX121246-S
• H3K4me1 antibody for Western blot, ChIP-seq and CUT&RUN
• Indicators to evaluate the histone modification system (H3K4 indicators) – contact Hans Björnsson

CAREGIVER BURDEN STUDIES

• KSF 2021 Crowdsourcing survey results
• Caregiver-reported clinical characteristics and the burden associated with Kabuki syndrome. (2020) 
• A Qualitative Study to Characterize the Humanistic Burden of Kabuki Syndrome in the United States and Canada. (2022)

PATIENT REGISTRIES

• Kabuki Count, the global contact registry
• Kabuki Syndrome Registry on the NORD IAMRARE platform 
• CoRDS (Sanford Research) registry 

CLINICAL INFORMATION

• GeneReviews
• Clinical trials
• International consensus diagnostic criteria
• Clinical Management Guideline (2010) – an effort is underway to update these guidelines
• Natural History – there are several natural history studies ongoing.  Selected recent publications:
  • Prenatal and perinatal history in Kabuki Syndrome. (2020)
  • Growth charts in Kabuki syndrome 1. (2020)
  • Unmasking the challenges of Kabuki syndrome in adulthood: A case series. (2023)

CLINICAL ENDPOINTS AND BIOMARKERS 

• Speech and language via RedenLab
• KSF established the Kabuki Syndrome Outcome measures and biomarkers Consortium (KSOC), which is currently validating 3 biomarkers:
  • DNA methylation signature 
  • Event-related potential (ERP)
  • Metabolomic biomarker

THERAPEUTIC PATHWAYS BEING EXPLORED

• HDAC inhibition (Modified Atkins Diet, ketogenic composition)
• A ketogenic diet rescues hippocampal memory defects in a mouse model of Kabuki syndrome (2017)
• LSD1 inhibition (vafidemstat)
• Stimulation of neurogenesis (DCF)