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 reveals a novel variant in two Iranian families with autosomal recessive primary microcephaly.

Molecular biology reports - 22 Jul 2025

Mazaheri Mahta, Sadr Zahra, Ehtesham Naeim, Yavari Mahdieh, Ahrar Hossein, Khodaei Hossein

Abstract excerpt

BACKGROUND: Microcephaly primary hereditary (MCPH) is characterized by a reduced occipitofrontal circumference. We assessed the clinical and genetic characteristics of three Iranian individuals from two consanguineous families diagnosed with MCPH. METHODS AND RESULTS: Probands underwent whole-exome sequencing (WES). Sanger sequencing was used to confirm the candidate mutation and to analyze segregation within...

Read the complete abstract on PubMed

Topics

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

Share to Cell Cycle Proteins
Share to Consanguinity

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Exome Sequencing

Share to Homozygote

Share to Microcephaly

Share to Nerve Tissue Proteins

Source

Identifiers

PMID: 40694266
DOI: 10.1007/s11033-025-10833-4

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 22 Oct 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Whole-exome sequencing reveals a novel variant in two Iranian families with autosomal recessive primary microcephaly.PMID 40694266Read ↗

Novel phenotype and genotype spectrum of WDR62 in two patients with associated primary autosomal recessive microcephaly.Semantic proximity Read ↗

A novel non sense mutation in WDR62 causes autosomal recessive primary microcephaly: a case report.Semantic proximity Read ↗

A novel single base pair duplication in WDR62 causes primary microcephaly.Semantic proximity Read ↗

Case Report: Two Cases of Autosomal Recessive Primary Microcephaly Caused by WDR62 Gene MutationSemantic proximity Read ↗

Molecular genetics, neuroimaging outcomes, and structural analyses of novel and recurrent variants of WDR62 gene in two consanguineous Pakistani families with autosomal recessive primary microcephaly.Semantic proximity Read ↗

A Rare Cause of Primary Microcephaly: 4 New Variants in CDK5RAP2 Gene and Review of the Literature.Semantic proximity Read ↗

Novel splice-site mutation in WDR62 revealed by whole-exome sequencing in a Sudanese family with primary microcephaly.Semantic proximity Read ↗

Novel mutations c.28G>T (p.Ala10Ser) and c.189G>T (p.Glu63Asp) in WDR62 associated with early onset acanthosis and hyperkeratosis in a patient with autosomal recessive microcephaly type 2.Semantic proximity Read ↗

Prenatal Diagnosis of Autosomal Recessive Primary Microcephaly Type 2 Caused by Compound Heterozygous WDR62 Variants in a Family With Two Recurrent Cases.Semantic proximity Read ↗

Molecular analysis of 23 Pakistani families with autosomal recessive primary microcephaly using targeted next-generation sequencing.Semantic proximity Read ↗

Mutations in WDR62, encoding a centrosomal and nuclear protein, in Indian primary microcephaly families with cortical malformations.Semantic proximity Read ↗

A novel mutation of WDR62 gene associated with severe phenotype including infantile spasm, microcephaly, and intellectual disability.Semantic proximity Read ↗

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