ReviewJournal of applied genetics2019
A novel WDR62 missense mutation in microcephaly with abnormal cortical architecture and review of the literature.
Review in Journal of applied genetics, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
15 citing papers in PubMed, 24 citations in OpenAlex.
- Prenatal Diagnosis of Autosomal Recessive Primary Microcephaly Type 2 Caused by Compound Heterozygous WDR62 Variants in a Family With Two Recurrent Cases.Molecular genetics & genomic medicine · 2026Article
- A Human Neural Tube Model Using 4D Self-Folding Smart Scaffolds.Advanced healthcare materials · 2026Article
- Whole-exome sequencing reveals a novel variant in two Iranian families with autosomal recessive primary microcephaly.Molecular biology reports · 2025Article
- Genetic Primary Microcephalies: When Centrosome Dysfunction Dictates Brain and Body Size.Cells · 2023Review
- Emerging Epidemiological Data on Rare Intellectual Disability Syndromes from Analyzing the Data of a Large Iranian Cohort.Archives of Iranian medicine · 2023Article
- Review
- An evolutionarily conserved mechanism that amplifies the effect of deleterious mutations in osteosarcoma.Molecular genetics and genomics : MGG · 2022Article
- Post-transcriptional and Post-translational Modifications of Primary Cilia: How to Fine Tune Your Neuronal Antenna.Frontiers in cellular neuroscience · 2022Review
- Phenotypes and genotypes in non-consanguineous and consanguineous primary microcephaly: High incidence of epilepsy.Molecular genetics & genomic medicine · 2021Article
- Article
- Autosomal Recessive Primary Microcephaly: Not Just a Small Brain.Frontiers in cell and developmental biology · 2021Review
- Pathophysiological Significance of WDR62 and JNK Signaling in Human Diseases.Frontiers in cell and developmental biology · 2021Review
- An update of pathogenic variants in ASPM, WDR62, CDK5RAP2, STIL, CENPJ, and CEP135 underlying autosomal recessive primary microcephaly in 32 consanguineous families from Pakistan.Molecular genetics & genomic medicine · 2020Article
- PDCD6IP, encoding a regulator of the ESCRT complex, is mutated in microcephaly.Clinical genetics · 2020Article
- Two Novel Mutations (c.883-4_890del and c.1684C>G) ofFrontiers in pediatrics · 2019Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
8 authors at 2 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Autosomal recessive primary microcephaly (MCPH) is a group of rare neurodevelopmental diseases with severe microcephaly at birth. One type of the disorder, MCPH2, is caused by biallelic mutations in the WDR62 gene, which encodes the WD repeat-containing protein 62. Patients with WDR62 mutation may have a wide range of malformations of cortical development in addition to congenital microcephaly. We describe two patients, a boy and a girl, with severe congenital microcephaly, global developmental delay, epilepsy, and failure to thrive. MRI showed hemispherical asymmetry, diffuse pachygyria, thick gray matter, indistinct gray-white matter junction, and corpus callosum and white matter hypoplasia. Whole exome sequencing revealed the same novel homozygous missense mutation, c.668T>C, p.Phe223Ser in exon 6 of the WDR62 gene. The healthy parents were heterozygous for this mutation. The mutation affects a highly conserved region in one of the WD repeats of the WDR62 protein. Haplotype analysis showed genetic relatedness between the families of the patients. Our findings expand the spectrum of mutations randomly distributed in the WDR62 gene. A review is also provided of the brain malformations described in WDR62 mutations in association with congenital microcephaly.
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.