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A review of structural brain abnormalities in Pallister-Killian syndrome
Cathryn Poulton1, Gareth Baynam2,3,4,5,6,7,8, Clarissa Yates9
1Department of Neurology, Princess Margaret Hospital, Subiaco, WA, Australia.
Insights
Pallister-Killian syndrome (PKS), a rare genetic disorder, is strongly linked to brain abnormalities. This study identifies specific 12p gene regions associated with these neurological defects in affected children.
Area of Science:
- Neurogenetics
- Developmental Biology
- Genomics
Background:
- Pallister-Killian syndrome (PKS) is a rare genetic disorder characterized by mosaic tetrasomy of chromosome 12p.
- PKS is frequently associated with neurological defects and multisystem developmental abnormalities.
Observation:
- Two PKS patients presented with distinct brain malformations: polymicrogyria and macrocephaly with corpus callosum hypogenesis.
- A literature review of 93 PKS cases revealed a high prevalence (77.41%) of structural brain abnormalities.
Findings:
- Ventricular abnormalities (45.83%), corpus callosum issues (25.00%), and cerebral atrophy (29.17%) were most common.
- Macrocephaly (12.5%) and polymicrogyria (4.17%) were less frequent but noted.
- Sixty-three nervous system-enriched genes on 12p were identified, highlighting their role in neurodevelopment and PKS-related brain abnormalities.
Implications:
- This research reinforces the link between PKS and diverse structural brain abnormalities.
- It suggests a complex neurogenetic basis for PKS, involving specific 12p gene regions critical for brain development.
- Understanding these genetic underpinnings can aid in diagnosing and managing neurological impairments in PKS patients.
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.
