KMT2C

On this page, you will find information about a genetic change that was identified in UDN participants.

Sharing information on this website is not a requirement of UDN participation. Only descriptions about participants who give explicit consent will appear here.

Changes in the KMT2C gene were identified in two UDN participants. One participant is an 18-year-old male with global developmental delay, autism, severe nearsightedness (myopia), different facial features, and a history of heart defects (atrial septal defect, ventricular septal defect), and cleft palate (read full description). The other participant is a 7-year-old male with global developmental delay, muscle weakness, hand tremor, increased tone in lower limbs (hypertonia), and facial differences (read full description).

Date of Report

Aug 18, 2021

Full Name

lysine methyltransferase 2C

Location

Chromosome 7 (7q36.1)

Function

The KMT2C gene encodes for a histone methyltransferase that modifies chromatin structure and regulates gene transcription through mediation of mono- and tri-methylation of histone H3 at lysine 4 (Koemans et al., 2017).

Database Links

GeneCards: KMT2C

NCBI Gene: 58508

OMIM: 606833

UniProtKB/Swiss-Prot: Q8NEZ4

Clinical Significance

Changes in this gene were identified in two UDN participants.

Participant 008, an 18-year-old male with global developmental delay, autism, severe nearsightedness (myopia), different facial features, and a history of heart defects (atrial septal defect, ventricular septal defect), and cleft palate was found to carry the following de novo genetic change in the KMT2C gene:

99.9kb deletion including exons 2-6 (inheritance pattern: autosomal dominant, position: chr7:g.151993317_ 152093215del, transcript: NM_170606.2)

Clinicians and researchers believe that these genetic changes are causing the participant’s symptoms (OMIM 617768). Families affected by this condition have formed a Facebook group to connect with one another and share information. More information about the condition can be found on the KMT2C Foundation website.

Participant 178, a 7-year-old male with global developmental delay, muscle weakness, hand tremor, increased tone in lower limbs (hypertonia), and facial differences was found to carry the following de novo genetic change in the KMT2C gene:

c.161+15463A>G (inheritance pattern: unknown, position: chr7:g.152117248T>C, transcript: NM_170606.2)

Research is underway to see if this change is causing symptoms in this participant.

Gene	Inheritance	Position (hg19)	Transcript	DNA Change	Protein Change
KMT2C	see gene page	see gene page	see gene page	see gene page	see gene page

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