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

Expanding phenotype of XNP mutations: mild to moderate mental retardation.

American journal of medical genetics - 1 Jul 2002

Yntema Helger G, Poppelaars Francis A, Derksen Esther, Oudakker Astrid R, van Roosmalen Tanja, Jacobs Anja, Obbema Hanneke, Brunner Han G, Hamel Ben C J, van Bokhoven Hans

Abstract excerpt

Mutations in the XNP gene have been reported in alpha thalassemia/mental retardation (MR) syndrome (ATR-X) and other severe X-linked MR conditions with facial dysmorphisms. In this report, we describe a missense mutation in exon 18 in a family with borderline to moderate MR. Like other disorders associated with an XNP mutation, skewed X-inactivation was found in all carrier females in this family. Only...

Read the complete abstract on PubMed

Topics

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

Share to DNA
Share to DNA Helicases

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to DNA Mutational Analysis

Share to Family Health

Share to Intellectual Disability

Share to Mutation, Missense

Share to Nuclear Proteins

Share to X-linked Nuclear Protein

Source

Identifiers

PMID: 12116232
DOI: 10.1002/ajmg.10446

Genes

ATR

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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

Expanding phenotype of XNP mutations: mild to moderate mental retardation.PMID 12116232Read ↗

Evaluation of a mutation screening strategy for sporadic cases of ATR-X syndrome.Semantic proximity Read ↗

Splicing mutation in the ATR-X gene can lead to a dysmorphic mental retardation phenotype without alpha-thalassemia.Semantic proximity Read ↗

Molecular-clinical spectrum of the ATR-X syndrome.Semantic proximity Read ↗

Mutation in the 5' alternatively spliced region of the XNP/ATR-X gene causes Chudley-Lowry syndrome.Semantic proximity Read ↗

A nonsense mutation of the ATRX gene causing mild mental retardation and epilepsy.Semantic proximity Read ↗

Clinical and hematologic aspects of the X-linked alpha-thalassemia/mental retardation syndrome (ATR-X).Semantic proximity Read ↗

Inv(X)(p21.1;q22.1) in a man with mental retardation, short stature, general muscle wasting, and facial dysmorphism: clinical study and mutation analysis of the NXF5 gene.Semantic proximity Read ↗

Prenatal diagnosis of ATR-X syndrome in a fetus with a new G>T splicing mutation in the XNP/ATR-X gene.Semantic proximity Read ↗

A point mutation in the XNP gene, associated with an ATR-X phenotype without alpha-thalassemia.Semantic proximity Read ↗

ATR-X mutations cause impaired nuclear location and altered DNA binding properties of the XNP/ATR-X protein.Semantic proximity Read ↗

A novel splicing mutation of the ATRX gene in ATR-X syndrome.Semantic proximity Read ↗

Non-skewed X-inactivation may cause mental retardation in a female carrier of X-linked alpha-thalassemia/mental retardation syndrome (ATR-X): X-inactivation study of nine female carriers of ATR-X.Semantic proximity Read ↗

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