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Cited by 20Genomics and Rare DiseasesConnective tissue disorders researchGenetics and Neurodevelopmental Disorders

Identification of two novel critical mutations in PCNT gene resulting in microcephalic osteodysplastic primordial dwarfism type II associated with multiple intracranial aneurysms

Li, Fei-Feng, Wang, Xu-Dong, Zhu, Min-Wei, Lou, Zhi-Hong, Zhang, Qiong, Zhu, Chun-Yu, Feng, Hong-Lin, Lin, Zhi-Guo +1 more·2015·Metabolic Brain Disease
DOI 10.1007/s11011-015-9712-y
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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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Authors
Li, F.-F., Wang, X.-D., Zhu, M.-W., Lou, Z.-H., Zhang, Q., Zhu, C.-Y., Feng, H.-L., Lin, Z.-G., & Liu, S.-L.
Affiliations
Harbin Medical University (CN)
Corresponding author
  • Lou, Zhi-Hong
  • Liu, Shu-Lin
ORCID
Venue
Metabolic Brain Disease
Publisher
Springer Science and Business Media LLC
Published
2015-08-01
Volume
30
Issue
6
Pages
1387-1394
ISSN
  • 0885-7490 (ISSN-L)
  • 1573-7365
DOI
10.1007/s11011-015-9712-y
OpenAlex
W990852582
Cited by
20
References
28
Citations by year
2025: 1 · 2023: 2 · 2021: 6 · 2020: 3 · 2019: 5 · 2018: 1 · 2016: 1 · 2015: 1
FWCI
0.68
Type
journal article
Language
en
Open access
closed
Licence
www.springer.com/tdm (tdm)
Locations
  • Metabolic Brain Disease (publishedVersion)
  • PubMed (publishedVersion)
Topics
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomics and Rare Diseases
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Connective tissue disorders research
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
Keywords
microcephalic osteodysplastic primordial dwarfism type II, intracranial aneurysm, subarachnoid hemorrhage, novel mutations, protein deletion, protein structure modeling, autosomal recessive inheritance, growth restriction, Chinese family
MeSH terms
Adolescent, Adult, Amino Acid Sequence, Antigens, Intracranial Aneurysm, Child, Computer Simulation, Dwarfism, Female, Fetal Growth Retardation, Growth Disorders, Humans, Male, Microcephaly, Models, Molecular, Molecular Sequence Data, Mutation, Osteochondrodysplasias, Pedigree, Subarachnoid Hemorrhage, Gene Deletion, Protein Structure, Secondary, Protein Structure, Tertiary, Asian People, Hydrophobic and Hydrophilic Interactions

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