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

A Homozygous AKNA Frameshift Variant Is Associated with Microcephaly in a Pakistani Family.

Genes - 24 Sept 2021

Waseem Syeda Seema, Moawia Abubakar, Budde Birgit, Tariq Muhammad, Khan Ayaz, Ali Zafar, Khan Sheraz, Iqbal Maria, Malik Naveed Altaf, Haque Saif Ul, Altmüller Janine, Thiele Holger, Hussain Muhammad Sajid, Cirak Sebahattin, Baig Shahid Mahmood, Nürnberg Peter

Abstract excerpt

Primary microcephaly (MCPH) is a prenatal condition of small brain size with a varying degree of intellectual disability. It is a heterogeneous genetic disorder with 28 associated genes reported so far. Most of these genes encode centrosomal proteins. Recently, AKNA was recognized as a novel centrosomal protein that regulates neurogenesis via microtubule organization, making AKNA a likely candidate gene for MCPH....

Read the complete abstract on PubMed

Topics

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

Share to Centrosome
Share to Cerebral Cortex

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Exome Sequencing

Share to Frameshift Mutation

Share to Genetic Linkage

Share to Intellectual Disability

Share to Microcephaly

Share to Pakistan

Source

Open in PubMed Open full text

Identifiers

PMID: 34680889
DOI: 10.3390/genes12101494
PMCID: PMC8535656

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

A Homozygous AKNA Frameshift Variant Is Associated with Microcephaly in a Pakistani Family.PMID 34680889Read ↗

Mutation screening of multiple Pakistani MCPH families revealed novel and recurrent protein-truncating mutations of ASPM.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 ↗

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

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

Comprehensive review on the molecular genetics of autosomal recessive primary microcephaly (MCPH)Semantic proximity Read ↗

CDK5RAP2 interaction with components of the Hippo signaling pathway may play a role in primary microcephaly.Semantic proximity Read ↗

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

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

A truncating mutation of CEP135 causes primary microcephaly and disturbed centrosomal function.Semantic proximity Read ↗

Previously described sequence variant in CDK5RAP2 gene in a Pakistani family with autosomal recessive primary microcephaly.Semantic proximity Read ↗

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

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