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 missense mutation in the CRBN gene that segregates with intellectual disability and self-mutilating behaviour in a consanguineous Saudi family.

Journal of medical genetics - 1 Apr 2017

Sheereen Atia, Alaamery Manal, Bawazeer Shahad, Al Yafee Yusra, Massadeh Salam, Eyaid Wafaa

Abstract excerpt

BACKGROUND: Autosomal-recessive non-syndromic intellectual disability (ARNS-ID) is an aetiologically heterogeneous disorder. Although little is known about the function of human cereblon (CRBN), its relationship to mild cognitive deficits suggests that it is involved in the basic processes of human memory and learning. OBJECTIVES: We aim to identify the genetic cause of intellectual disability and self-mutilation...

Read the complete abstract on PubMed

Topics

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

Share to Adaptor Proteins, Signal Transducing
Share to Consanguinity

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genetic Association Studies

Share to Intellectual Disability

Share to Mutation, Missense

Share to Peptide Hydrolases

Share to Ubiquitin-Protein Ligases

Source

Open in PubMed Open full text

Identifiers

PMID: 28143899
DOI: 10.1136/jmedgenet-2016-104117
PMCID: PMC5502306

Genes

CRBN

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

A missense mutation in the CRBN gene that segregates with intellectual disability and self-mutilating behaviour in a consanguineous Saudi family.PMID 28143899Read ↗

A newly recognized autosomal recessive syndrome affecting neurologic function and vision.Semantic proximity Read ↗

Bi-allelic TTC5 variants cause delayed developmental milestones and intellectual disability.Semantic proximity Read ↗

Deep sequencing reveals 50 novel genes for recessive cognitive disorders.Semantic proximity Read ↗

TBCK-related intellectual disability syndrome: Case study of two patients.Semantic proximity Read ↗

Homozygosity mapping in 64 Syrian consanguineous families with non-specific intellectual disability reveals 11 novel loci and high heterogeneity.Semantic proximity Read ↗

A novel variant of ST3GAL3 causes non-syndromic autosomal recessive intellectual disability in Iranian patients.Semantic proximity Read ↗

Novel mutations in WWOX, RARS2, and C10orf2 genes in consanguineous Arab families with intellectual disability.Semantic proximity Read ↗

Mutations in zinc finger 407 [ZNF407] cause a unique autosomal recessive cognitive impairment syndrome.Semantic proximity Read ↗

Novel KCNB1 mutation associated with non-syndromic intellectual disability.Semantic proximity Read ↗

A Novel Homozygous Founder Variant of RTN4IP1 in Two Consanguineous Saudi Families.Semantic proximity Read ↗

ILDR1: Novel mutation and a rare cause of congenital deafness in the Saudi Arabian population.Semantic proximity Read ↗

Sudden unexpected fatal encephalopathy in adults with OTC gene mutations-Clues for early diagnosis and timely treatment.Semantic proximity Read ↗

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