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

Whole exome sequencing identifies a splicing mutation in NSUN2 as a cause of a Dubowitz-like syndrome.

Journal of medical genetics - 1 Jun 2012

Martinez Fernando Jose, Lee Jeong Ho, Lee Ji Eun, Blanco Sandra, Nickerson Elizabeth, Gabriel Stacey, Frye Michaela, Al-Gazali Lihadh, Gleeson Joseph G

Abstract excerpt

BACKGROUND: Dubowitz syndrome (DS) is an autosomal recessive disorder characterized by the constellation of mild microcephaly, growth and mental retardation, eczema and peculiar facies. Over 140 cases have been reported, but the genetic basis is not understood. METHODS: We enrolled a multiplex consanguineous family from the United Arab Emirates with many of the key clinical features of DS as reported in previous...

Read the complete abstract on PubMed

Topics

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

Share to Eczema
Share to Exome

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Facies

Share to Growth Disorders

Share to Methyltransferases

Share to Microcephaly

Share to RNA Splicing

Share to United Arab Emirates

Source

Open in PubMed Open full text

Identifiers

PMID: 22577224
DOI: 10.1136/jmedgenet-2011-100686
PMCID: PMC4771841

Genes

NSUN2

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

Whole exome sequencing identifies a splicing mutation in NSUN2 as a cause of a Dubowitz-like syndrome.PMID 22577224Read ↗

Mutation in NSUN2, which encodes an RNA methyltransferase, causes autosomal-recessive intellectual disability.Semantic proximity Read ↗

A Novel Deep Intronic Variant in NSD1 Causing Sotos Syndrome.Semantic proximity Read ↗

Identification and Functional Analysis of a Novel NSD2 Missense Variant in a Patient With Rauch-Steindl Syndrome.Semantic proximity Read ↗

A novel variant in NSUN2 causes intellectual disability in a Chinese family.Semantic proximity Read ↗

Exploring the Impact of RNU4-2 Defects on Neurodevelopmental Disorders in a Korean Population.Semantic proximity Read ↗

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

A Novel Single-Nucleotide Deletion (c.1020delA) in NSUN2 Causes Intellectual Disability in an Emirati Child.Semantic proximity Read ↗

Re-analysis of whole genome sequencing ends a diagnostic odyssey: Case report of an RNU4-2 related neurodevelopmental disorder.Semantic proximity Read ↗

Expanding the mutational spectrum of ReNU syndrome: insights into 5' Stem-loop variants.Semantic proximity Read ↗

NSD1 mutations generate a genome-wide DNA methylation signature.Semantic proximity Read ↗

UBE2A deficiency in two siblings: A novel splicing variant inherited from a maternal germline mosaicism.Semantic proximity Read ↗

Phenotypic spectrum of RNU4ATAC-related spliceosomopathies: four novel cases and integrated reevaluation of previously reported patients.Semantic proximity Read ↗

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