Human Disease Model Report: intellectual disability, autosomal recessive 65

General Information

Name

intellectual disability, autosomal recessive 65

FlyBase ID

FBhh0001335

Disease Ontology Term

autosomal recessive intellectual developmental disorder 65

Parent Disease

intellectual disability, autosomal recessive

OMIM

INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 65; MRT65

Overview

This report describes intellectual disability, autosomal recessive 65, also known as mental retardation, autosomal recessive 65 (MRT65). The gene implicated in this disease is KDM5B, one of 4 paralogous KDM5 genes in human. For information on a Drosophila model of this and related diseases see 'intellectual disability, KDM5-related' (FBhh0001334).

[updated Apr. 2021 by FlyBase; FBrf0222196]

Disease Summary Information

Parent Disease Summary: intellectual disability, autosomal recessive

Symptoms and phenotype

Intellectual disability is characterized by impairments in intellectual functioning and adaptive behavior; symptoms must be present before a child becomes 18 years old (http://medical-dictionary.thefreedictionary.com/mental+retardation; 2016.01.19).

(FlyBase Curators, 2013-)

Intellectual disability can be subdivided into syndromic forms, characterized by cognitive impairment accompanied by dysmorphic features, malformations or neurological abnormalities, and nonsyndromic forms, characterized by cognitive impairment without additional features (Basel-Vanagaite, 2008; DOI: 10.1002/9780470015902.a0021454).

(FlyBase Curators, 2013-)

Specific Disease Summary: intellectual disability, autosomal recessive 65

OMIM report

[INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 65; MRT65](https://omim.org/entry/618109)

Human gene(s) implicated

[LYSINE DEMETHYLASE 5B; KDM5B](https://omim.org/entry/605393)

Symptoms and phenotype

Individuals with this disorder exhibit moderate to severe developmental delay and intellectual disability. Frequently, variable dysmorphic facial features or other anatomical abnormalities are present. [from MIM:618109; 2021.04.06]

(OMIM, 2013-)

Genetics

Autosomal recessive mental retardation-65 (MRT65) is caused by homozygous or compound heterozygous mutation in the KDM5B gene. In a study of 9 individuals heterozygous for a mutation in KDM5B, moderate developmental delay was observed. [from MIM:618109; 2021.04.06]

(OMIM, 2013-)

Cellular phenotype and pathology

Molecular information

KDM5B encodes a histone demethylase that demethylates Lys-4 of histone H3; does not demethylate histone H3 Lys-9 or H3 Lys-27. Demethylates trimethylated, dimethylated and monomethylated H3 Lys-4. Plays a role in transcriptional repression of specific genes; may also play a role in genome stability and DNA repair. [Gene Cards, KDM5B; 2021.04.06]

(FlyBase Curators, 2013-)

External links