Journal article
A review of structural brain abnormalities in Pallister-Killian syndrome
Molecular Genetics & Genomic Medicine, Vol.6(1), pp.92-98
2017
Abstract
Background
Pallister-Killian syndrome (PKS) is a rare multisystem developmental syndrome usually caused by mosaic tetrasomy of chromosome 12p that is known to be associated with neurological defects.
Methods
We describe two patients with PKS, one of whom has bilateral perisylvian polymicrogyria (PMG), the other with macrocephaly, enlarged lateral ventricles and hypogenesis of the corpus callosum. We have also summarized the current literature describing brain abnormalities in PKS.
Results
We reviewed available cases with intracranial scans (n = 93) and found a strong association between PKS and structural brain abnormalities (77.41%; 72/93). Notably, ventricular abnormalities (45.83%; 33/72), abnormalities of the corpus callosum (25.00%; 18/72) and cerebral atrophy (29.17%; 21/72) were the most frequently reported, while macrocephaly (12.5%; 9/72) and PMG (4.17%; 3/72) were less frequent. To further understand how 12p genes might be relevant to brain development, we identified 63 genes which are enriched in the nervous system. These genes display distinct temporal as well as region-specific expression in the brain, suggesting specific roles in neurodevelopment and disease. Finally, we utilized these data to define minimal critical regions on 12p and their constituent genes associated with atrophy, abnormalities of the corpus callosum, and macrocephaly in PKS.
Conclusion
Our study reinforces the association between brain abnormalities and PKS, and documents a diverse neurogenetic basis for structural brain abnormalities and impaired function in children diagnosed with this rare disorder.
Details
- Title
- A review of structural brain abnormalities in Pallister-Killian syndrome
- Authors/Creators
- C. Poulton (Author/Creator) - Department of Neurology, Princess Margaret Hospital, Subiaco, WA, Australia.G. Baynam (Author/Creator) - The Kids Research Institute AustraliaC. Yates (Author/Creator) - The University of Western AustraliaH. Alinejad-Rokny (Author/Creator) - The University of Western AustraliaS. Williams (Author/Creator) - Princess Margaret Cancer CentreH. Wright (Author/Creator) - Department of Paediatrics, Princess Margaret Hospital, Subiaco, WA, Australia.K.J. Woodward (Author/Creator) - The University of Western AustraliaS. Sivamoorthy (Author/Creator) - Pathwest Laboratory MedicineJ. Peverall (Author/Creator) - Pathwest Laboratory MedicineP. Shipman (Author/Creator) - Princess Margaret Hospital for ChildrenD. Ravine (Author/Creator) - Pathwest Laboratory MedicineJ. Beilby (Author/Creator) - The University of Western AustraliaJ.I-T Heng (Author/Creator) - The University of Western Australia
- Publication Details
- Molecular Genetics & Genomic Medicine, Vol.6(1), pp.92-98
- Publisher
- Wiley
- Identifiers
- 991005543633707891
- Copyright
- © 2017 The Authors.
- Murdoch Affiliation
- Institute for Immunology and Infectious Diseases
- Language
- English
- Resource Type
- Journal article
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- 1 Clinical & Life Sciences
- 1.186 Chromosome Disorders
- 1.186.948 Chromosomal Abnormalities
- Web Of Science research areas
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