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

Compound heterozygous ASPM mutations associated with microcephaly and simplified cortical gyration in a consanguineous Algerian family.

European journal of medical genetics - 1 Jan 2000

Saadi Abdelkrim, Borck Guntram, Boddaert Nathalie, Chekkour Mohamed Chahine, Imessaoudene Belaïd, Munnich Arnold, Colleaux Laurence, Chaouch Malika

Abstract excerpt

Homozygous mutations in the ASPM gene are a major cause of autosomal recessive primary microcephaly (MCPH). Here we report on a consanguineous Algerian family in which three out of five children presented with severe microcephaly, simplified cortical gyration, mild to severe mental retardation and low to low-normal birth weight. Given the parental consanguinity with the unaffected parents being third cousins once...

Read the complete abstract on PubMed

Topics

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

Share to Algeria
Share to Birth Weight

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

Share to Cerebral Cortex

Share to Consanguinity

Share to Family

Share to Microcephaly

Share to Radiography

Share to Siblings

Source

Identifiers

PMID: 19332161
DOI: 10.1016/j.ejmg.2009.03.013

Genes

ASPM

Variants

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. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Compound heterozygous ASPM mutations associated with microcephaly and simplified cortical gyration in a consanguineous Algerian family.PMID 19332161Read ↗

Two novel truncating variants of the ASPM gene identified in a nonconsanguineous Chinese family associated with primary microcephaly.Semantic proximity Read ↗

Molecular and phenotypic spectrum of ASPM-related primary microcephaly: Identification of eight novel mutations.Semantic proximity Read ↗

Novel protein-truncating mutations in the ASPM gene in families with autosomal recessive primary microcephaly.Semantic proximity Read ↗

Novel Pathogenic Mutation Mapping of ASPM Gene in Consanguineous Pakistani Families with Primary Microcephaly.Semantic proximity Read ↗

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

Protein-truncating mutations in ASPM cause variable reduction in brain size.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 ↗

Expanding the clinical and neuroradiologic phenotype of primary microcephaly due to ASPM mutations.Semantic proximity Read ↗

The molecular landscape of ASPM mutations in primary microcephaly.Semantic proximity Read ↗

Whole Exome Sequencing Identifies Three Novel Mutations in the ASPM Gene From Saudi Families Leading to Primary MicrocephalySemantic proximity Read ↗

Large Phenotypic Variation of Individuals from a Family with a Novel ASPM Mutation Associated with Microcephaly, Epilepsy, and Behavioral and Cognitive Deficits.Semantic proximity Read ↗

Mutation analysis of the ASPM gene in 18 Pakistani families with autosomal recessive primary microcephaly.Semantic proximity Read ↗

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