Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

A homozygous loss-of-function mutation in inositol monophosphatase 1 (IMPA1) causes severe intellectual disability.

Molecular psychiatry - 1 Aug 2016

Figueiredo T, Melo U S, Pessoa A L S, Nobrega P R, Kitajima J P, Rusch H, Vaz F, Lucato L T, Zatz M, Kok F, Santos S

Abstract excerpt

The genetic basis of intellectual disability (ID) is extremely heterogeneous and relatively little is known about the role of autosomal recessive traits. In a field study performed in a highly inbred area of Northeastern Brazil, we identified and investigated a large consanguineous family with nine adult members affected by severe ID associated with disruptive behavior. The Genome-Wide Human SNP Array 6.0...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Brazil
Share to Consanguinity

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Family

Share to Genome, Human

Share to Homozygote

Share to Intellectual Disability

Share to Phosphoric Monoester Hydrolases

Source

Identifiers

PMID: 26416544
DOI: 10.1038/mp.2015.150

Genes

IMPA1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

A homozygous loss-of-function mutation in inositol monophosphatase 1 (IMPA1) causes severe intellectual disability.PMID 26416544Read ↗

Inositol monophosphatase 1 (IMPA1) mutation in intellectual disability patients impairs neurogenesis but not gliogenesis.Semantic proximity Read ↗

A Novel Homozygous Splice Site Variant in AIMP1 Gene Causing Hypomyelinating Leukodystrophy: Case Report and Review of the Literature.Semantic proximity Read ↗

Exome sequencing identifies novel and known mutations in families with intellectual disability.Semantic proximity Read ↗

A human myo-inositol monophosphatase gene (IMPA2) localized in a putative susceptibility region for bipolar disorder on chromosome 18p11.2: genomic structure and polymorphism screening in manic-depressive patients.Semantic proximity Read ↗

Genetic basis of intellectual disability.Semantic proximity Read ↗

METAP1 mutation is a novel candidate for autosomal recessive intellectual disability.Semantic proximity Read ↗

Homozygous missense mutation in MED25 segregates with syndromic intellectual disability in a large consanguineous family.Semantic proximity Read ↗

Examination of IMPA1 and IMPA2 genes in manic-depressive patients: association between IMPA2 promoter polymorphisms and bipolar disorder.Semantic proximity Read ↗

The genetics of intellectual disability: advancing technology and gene editingSemantic proximity Read ↗

Recessive DEAF1 mutation associates with autism, intellectual disability, basal ganglia dysfunction and epilepsy.Semantic proximity Read ↗

A genotype-first approach identifies an intellectual disability-overweight syndrome caused by PHIP haploinsufficiency.Semantic proximity Read ↗

Missense variants in AIMP1 gene are implicated in autosomal recessive intellectual disability without neurodegeneration.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.