KMT2B

On this page, you will find information about a genetic change that was identified in a UDN participant. We are trying to find others with the same or similar condition.

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 this gene were identified in two UDN participants. One participant is an 11-year-old male with childhood-onset dystonia 28 (read full description). The other participant is a 5-year-old male with with global developmental delay, coordination and movement problems (ataxia), and speech delays (read full description).

Date of Report

Jun 02, 2022

Full Name

lysine methyltransferase 2B

Location

Chromosome 19 (19q13.12)

Function

The gene encodes a protein that is involved in gene activation (Shao et al., 2014).

Database Links

GeneCards: KMT2B

NCBI Gene: 9757

OMIM: 606834

UniProtKB/Swiss-Prot: Q9UMN6

Clinical Significance

Changes in this gene were identified in two UDN participants.

Participant 060, an 11-year-old male with childhood-onset dystonia 28 was found to carry the following genetic change in the KMT2B gene:

c.4931G>T/p.Cys1644Phe (inheritance pattern: autosomal dominant, position: chr19:g.36220881G>T, transcript: NM_014727.2)

More information about KMT2B-related dystonia can be found here.

Participant 201, a 5-year-old male with global developmental delay, coordination and movement problems (ataxia), and speech delays was found to carry the following genetic change in the KMT2B gene:

c.6856G>A/p.Gly2286Ser (inheritance pattern: unknown, position: chr19:g.36224306G>A, transcript: NM_014727.1)

Gene	Inheritance	Position (hg19)	Transcript	DNA Change	Protein Change
KMT2B	see gene page	see gene page	see gene page	see gene page	see gene page

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