Modifier Genes in Microcephaly: A Report on WDR62, CEP63, RAD50 and PCNT Variants Exacerbating Disease Caused by Biallelic Mutations of ASPM and CENPJ.

doi:10.3390/genes12050731

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

Modifier Genes in Microcephaly: A Report on WDR62, CEP63, RAD50 and PCNT Variants Exacerbating Disease Caused by Biallelic Mutations of ASPM and CENPJ.

Genes - 13 May 2021

Makhdoom Ehtisham Ul Haq, Waseem Syeda Seema, Iqbal Maria, Abdullah Uzma, Hussain Ghulam, Asif Maria, Budde Birgit, Höhne Wolfgang, Tinschert Sigrid, Saadi Saadia Maryam, Yousaf Hammad, Ali Zafar, Fatima Ambrin, Kaygusuz Emrah, Khan Ayaz, Jameel Muhammad, Khan Sheraz, Tariq Muhammad, Anjum Iram, Altmüller Janine, Thiele Holger, Höning Stefan, Baig Shahid Mahmood, Nürnberg Peter, Hussain Muhammad Sajid

Abstract excerpt

Congenital microcephaly is the clinical presentation of significantly reduced head circumference at birth. It manifests as both non-syndromic-microcephaly primary hereditary (MCPH)-and syndromic forms and shows considerable inter- and intrafamilial variability. It has been hypothesized that additional genetic variants may be responsible for this variability, but data are sparse. We have conducted deep phenotyping...

Read the complete abstract on PubMed

Topics

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

Share to Acid Anhydride Hydrolases

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Antigens

Share to Cell Cycle Proteins

Share to Genes, Modifier

Share to Heterozygote

Share to Microcephaly

Share to Microtubule-Associated Proteins

Share to Nerve Tissue Proteins

Source

Open in PubMed Open full text

Identifiers

PMID: 34068194
DOI: 10.3390/genes12050731
PMCID: PMC8153008

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

Modifier Genes in Microcephaly: A Report on WDR62, CEP63, RAD50 and PCNT Variants Exacerbating Disease Caused by Biallelic Mutations of ASPM and CENPJ.PMID 34068194Read ↗

Autosomal Recessive Primary Microcephaly (MCPH): clinical manifestations, genetic heterogeneity and mutation continuum.Semantic proximity Read ↗

Genetic heterogeneity in Pakistani microcephaly families revisited.Semantic proximity Read ↗

An update of pathogenic variants in ASPM, WDR62, CDK5RAP2, STIL, CENPJ, and CEP135 underlying autosomal recessive primary microcephaly in 32 consanguineous families from Pakistan.Semantic proximity Read ↗

Molecular genetic analysis of consanguineous families with primary microcephaly identified pathogenic variants in the ASPM gene.Semantic proximity Read ↗

A clinical and molecular genetic study of 112 Iranian families with primary microcephaly.Semantic proximity Read ↗

A framework to identify modifier genes in patients with Phelan-McDermid syndromeSemantic proximity Read ↗

Elucidating the Genetic Landscape, Phenotypic Spectrum, and Pathogenic Mechanisms in a Turkish Cohort with Primary Microcephaly.Semantic proximity Read ↗

Identification of Pathogenic Mutations in Primary Microcephaly- (MCPH-) Related Three Genes CENPJ, CASK, and MCPH1 in Consanguineous Pakistani Families.Semantic proximity Read ↗

Expanding the genetic spectrum of autosomal recessive microcephaly in Pakistani families.Semantic proximity Read ↗

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

Genetic heterogeneity in Pakistani microcephaly families.Semantic proximity Read ↗

Phenotypes and genotypes in non-consanguineous and consanguineous primary microcephaly: High incidence of epilepsy.Semantic proximity Read ↗

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