ArticleAnnals of Saudi medicine
A novel WDR62 mutation causes primary microcephaly in a large consanguineous Saudi family.
Article in Annals of Saudi medicine. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers, 1 of them a synthesis that pooled it.
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Who cites it
15 citing papers in PubMed, 1 synthesis or guideline pooled it, 20 citations in OpenAlex.
- Genetic aetiology of global developmental delay and intellectual disability in Africa: a scoping review.Frontiers in genetics · 2026Pooled it
- 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
- Whole-exome sequencing reveals a novel variant in two Iranian families with autosomal recessive primary microcephaly.Molecular biology reports · 2025Article
- Novel phenotype and genotype spectrum of WDR62 in two patients with associated primary autosomal recessive microcephaly.Irish journal of medical science · 2022Article
- Identification of Pathogenic Mutations in Primary Microcephaly- (MCPH-) Related Three GenesBioMed research international · 2022Article
- Article
- Whole Exome Sequencing Identifies Three Novel Mutations in theFrontiers in pediatrics · 2020Article
- A novel WDR62 missense mutation in microcephaly with abnormal cortical architecture and review of the literature.Journal of applied genetics · 2019Review
- Two Novel Mutations (c.883-4_890del and c.1684C>G) ofFrontiers in pediatrics · 2019Article
- Novel compound heterozygous mutations inPakistan journal of medical sciences · 2019Article
- Novel compound heterozygous mutations in MCPH1 gene causes primary microcephaly in Saudi family.Neurosciences (Riyadh, Saudi Arabia) · 2018Article
- Comprehensive review on the molecular genetics of autosomal recessive primary microcephaly (MCPH).Genetics research · 2018Review
- The Role of WD40-Repeat Protein 62 (MCPH2) in Brain Growth: Diverse Molecular and Cellular Mechanisms Required for Cortical Development.Molecular neurobiology · 2018Review
- Establishing Mouse Models for Zika Virus-induced Neurological Disorders Using Intracerebral Injection Strategies: Embryonic, Neonatal, and Adult.Journal of visualized experiments : JoVE · 2018Article
- Association of Infantile Spasms and Hypsarrhythmia with Primary Microcephaly- Three Case Reports.Annals of Indian Academy of NeurologyArticle
Corrections and comments
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Authors and funding
8 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundPrimary microcephaly (MCPH) is a rare developmental defect characterized by impaired cognitive functions, retarded neurodevelopment and reduced brain size. It is genetically heterogeneous and more than 17 genes so far have been identified that are associated with this disease.
objectiveTo study the genetic defect in a consanguineous Saudi family with primary microcephaly.
designCross-sectional clinical genetics study of a Saudi family.
settingMedical genomics research center. PATIENTS AND
methodsBlood samples collected from six members of a family of healthy consanguineous parents were analyzed by whole exome sequencing to identify the underlying pathogenic mutations in two members of the family (23-year-old female and 7-year-old male) who presented with primary microcephaly, intellectual disability, delayed psychomotor development and walking difficulty, speech impedi-ments and seizures. MAIN OUTCOME MEASURE(S): Detection of mutation in the WD repeat domain 62 (WDR62) gene in a family segregating autosomal recessive primary microcephaly.
resultsThe exome variant analysis identified a novel missense mutation (c.3878C > A) in WDR62 gene in exon 30 resulting in amino acid change from alanine to aspartate (p.Ala1293Asp). Further validation in the affected patients and healthy members of family and 100 unrelated healthy persons as controls confirmed it to be pathogenic.
conclusionsFunctional impairment of the WDR62 gene can lead to severe neurodevelopmental de-fects, brain malformations and reduced head size. A missense mutation of exon 30 changed alanine to aspartate in the WDR62 protein leading to the typical MCPH phenotype. LIMITATIONS: Mutation was identified in a single family.
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