ArticlePakistan journal of medical sciences2019
Novel compound heterozygous mutations in
Article in Pakistan journal of medical sciences, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.
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Who cites it
6 citing papers in PubMed, 6 citations in OpenAlex.
- Genetic variants underlying congenital Zika syndrome and severe microcephaly: a systematic review and meta-analysis.Virusdisease · 2025Article
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- Pathophysiological Significance of WDR62 and JNK Signaling in Human Diseases.Frontiers in cell and developmental biology · 2021Review
- Whole Exome Sequencing Identifies Three Novel Mutations in theFrontiers in pediatrics · 2020Article
- Whole exome sequencing reveals a homozygous nonsense mutation inPakistan journal of medical sciencesArticle
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Authors and funding
6 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
objectivePrimary microcephaly (MCPH) is a rare autosomal recessive disorder characterized by impaired congenital reduction of brain size along with head circumference and intellectual disability. MCPH is a heterogeneous disorder and more than twenty four genes associated with this disease have been identified so far. The objective of this study was to find out the novel genes or mutations leading to the genetic defect in a Saudi family with primary microcephaly.
methodsWhole exome sequencing was carried out to find the novel mutation and the results was further validated using Sanger sequencing analysis. This study was done in the Center of excellence in Genomic Medicine and Research, King Abdulaziz University under KACST project during 2017 and 2018.
resultsWe report a novel compound heterozygous mutations c.797C>T in exon 7 and c.1102G>A in exon 9 of the WD repeat domain 62 (WDR62) (OMIM 604317) gene in two affected siblings in Saudi family with intellectual disability, speech impediments walking difficulty along with primary microcephaly. Two rare, missense variants were detected in heterozygous state in the
conclusionsA compound heterozygous mutations c.797C>T in exon 7 and c.1102G> A in exon 9 of the
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