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

Three Afghani siblings with a novel homozygous variant and further delineation of the clinical features of METTL5 related intellectual disability syndrome.

The Turkish journal of pediatrics - 1 Jan 2022

Torun Deniz, Arslan Mutluay, Çavdarlı Büşranur, Akar Hatice, Cram David Stephen

Abstract excerpt

BACKGROUND: METTL5 gene is one of the members of methyltransferase superfamily and biallelic variants cause intellectual disability syndrome (ID) with microcephaly. This article reports three new cases with METTL5 related ID syndrome in a consanguineous family. CASE: Afghanistan descent family was affected by a novel homozygous c.362A > G (p.Asp121Gly) METTL5 gene variant. This variant is predicted to be...

Read the complete abstract on PubMed

Topics

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

Share to Exome
Share to Intellectual Disability

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Microcephaly

Share to Pedigree

Share to Phenotype

Share to Siblings

Share to Speech Disorders

Share to Syndrome

Source

Identifiers

PMID: 36305450
DOI: 10.24953/turkjped.2020.3992

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

Three Afghani siblings with a novel homozygous variant and further delineation of the clinical features of METTL5 related intellectual disability syndrome.PMID 36305450Read ↗

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

MBD5-related intellectual disability in a Vietnamese child.Semantic proximity Read ↗

De novo loss-of-function mutations in SETD5, encoding a methyltransferase in a 3p25 microdeletion syndrome critical region, cause intellectual disability.Semantic proximity Read ↗

Novel PRMT7 mutation in a rare case of dysmorphism and intellectual disability.Semantic proximity Read ↗

A Novel Variant in NSUN2 Causes Intellectual Disability in a Chinese FamilySemantic proximity Read ↗

Expanding the clinical and molecular spectrum of PRMT7 mutations: 3 additional patients and review.Semantic proximity Read ↗

Disruption of the methyltransferase-like 23 gene METTL23 causes mild autosomal recessive intellectual disability.Semantic proximity Read ↗

Further delineation of METTL23-associated intellectual disability.Semantic proximity Read ↗

Homozygous single base deletion in TUSC3 causes intellectual disability with developmental delay in an Omani family.Semantic proximity Read ↗

[Identification of a novel mutation of MBD5 gene in a pedigree affected with autosomal dominant mental retardation type 1].Semantic proximity Read ↗

Mutation in ADAT3, encoding adenosine deaminase acting on transfer RNA, causes intellectual disability and strabismus.Semantic proximity Read ↗

Exome sequencing revealed a novel homozygous METTL23 gene mutation leading to familial mild intellectual disability with dysmorphic features.Semantic proximity Read ↗

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