ArticleMetabolic brain disease2015
Identification of two novel critical mutations in PCNT gene resulting in microcephalic osteodysplastic primordial dwarfism type II associated with multiple intracranial aneurysms.
Article in Metabolic brain disease, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.
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Who cites it
11 citing papers in PubMed, 23 citations in OpenAlex.
- Intracranial Aneurysms and Genetics: An Extensive Overview of Genomic Variations, Underlying Molecular Dynamics, Inflammatory Indicators, and Forward-Looking Insights.Brain sciences · 2023Review
- Genetic Primary Microcephalies: When Centrosome Dysfunction Dictates Brain and Body Size.Cells · 2023Review
- Time is of the essence: the molecular mechanisms of primary microcephaly.Genes & development · 2021Review
- A novel homozygous mutation of the PCNT gene in a Chinese patient with microcephalic osteodysplastic primordial dwarfism type II.Molecular genetics & genomic medicine · 2021Article
- A non-canonical function for Centromere-associated protein-E controls centrosome integrity and orientation of cell division.Communications biology · 2021Article
- Identification of three novel mutations in PCNT in vietnamese patients with microcephalic osteodysplastic primordial dwarfism type II.Genes & genomics · 2021Article
- Intracranial Aneurysms: Pathology, Genetics, and Molecular Mechanisms.Neuromolecular medicine · 2019Review
- Ocular characteristics in a variant microcephalic primordial dwarfism type II.BMC pediatrics · 2019Article
- New PCNT candidate missense variant in a patient with oral and maxillofacial osteodysplasia: a case report.BMC medical genetics · 2019Article
- A catalog of single nucleotide changes distinguishing modern humans from archaic hominins.Scientific reports · 2019Article
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Authors and funding
9 authors at 4 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Microcephalic osteodysplastic primordial dwarfism type II (MOPD II) is a highly detrimental human autosomal inherited recessive disorder. The hallmark characteristics of this disease are intrauterine and postnatal growth restrictions, with some patients also having cerebrovascular problems such as cerebral aneurysms. The genomic basis behind most clinical features of MOPD II remains largely unclear. The aim of this work was to identify the genetic defects in a Chinese family with MOPD II associated with multiple intracranial aneurysms. The patient had typical MOPD II syndrome, with subarachnoid hemorrhage and multiple intracranial aneurysms. We identified three novel mutations in the PCNT gene, including one single base alteration (9842A>C in exon 45) and two deletions (Del-C in exon 30 and Del-16 in exon 41). The deletions were co-segregated with the affected individual in the family and were not present in the control population. Computer modeling demonstrated that the deletions may cause drastic changes on the secondary and tertiary structures, affecting the hydrophilicity and hydrophobicity of the mutant proteins. In conclusion, we identified two novel mutations in the PCNT gene associated with MOPD II and intracranial aneurysms, and the mutations were expected to alter the stability and functioning of the protein by computer modeling.
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