Phenotypic expansion and structural analysis of the IQSEC2 p.Asp894Asn variant in a consanguineous Pashtun family.

doi:10.1007/s10048-026-00915-1

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

Community

Back to search

Article

Phenotypic expansion and structural analysis of the IQSEC2 p.Asp894Asn variant in a consanguineous Pashtun family.

Neurogenetics - 29 Jun 2026

Ayaz Muhammad, Khan Ibrar, Ahmed Sheraz, Bibi Nousheen, Abid Muhammad Adil, Rehman Attaur, Turchetti Valentina, Rahman Aizaz Ur, Khan Hayat, Nabi Danish, Khan Valeed, Houlden Henry, Efthymiou Stephanie, Ilyas Muhammad

Abstract excerpt

X-linked Intellectual Disability (XLID) is one of the heterogenous neurodevelopmental disorders caused by a gene defect on the X chromosome. Clinical symptoms of ID are comprised of the disability of adapting to social environments and cognitive dysfunction which is often defined by having an IQ of less than 70. Whole exome sequencing revealed a hemizygous variant c.2680G > A (p.Asp894Asn) in IQSEC2 in the...

Read the complete abstract on PubMed

Topics

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

Share to Consanguinity
Share to Guanine Nucleotide Exchange Factors

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Molecular Dynamics Simulation

Share to Mutation

Share to Pedigree

Share to Phenotype

Share to Protein Conformation

Share to X-Linked Intellectual Disability

Source

Open in PubMed

Identifiers

PMID: 42371214
DOI: 10.1007/s10048-026-00915-1

Genes

IQSEC2

Variants

Provenance

PubMed metadata and Literature Corpus relationships.