ICNC Abstracts, ICNC 2018

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A novel AP1S2 gene splice site mutation of X-linked mental retardation in a Chinese pedigree and literature review
Liang Huo

Last modified: 2018-09-09


Pettigrew syndrome (PGS) is a rare X-linked mental retardation that caused by AP1S2 mutation. The pathogenesis of AP1S2 deficiency has remained elusive. In this study, we identified a new c.1-1 G>C mutation in AP1S2 gene from a four generation family with seven affected individuals. Apart from previously describing clinical manifestation, we found the elevated neuron-specific enolase (NSE) in a patient. We summarized the clinical manifestation of 59 patients with AP1S2 mutation including 51 previously reported patients with two types of AP1S2 mutations. We conclude that pathogenic point mutations affecting AP1S2 are associated with dysmorphic features and neurodevelopmental problems, which included highly variablemental retardation (MR) , delayed in walking, abnormal speech, hypotonia, abnormal brain, abnormal behavior including aggressive behavior, ASD, self-abusive, and abnormal gait. Patients with splice site mutation were more likely to lead to seizures. By contrast, patients with nonsense mutations are more susceptible to microcephaly. Our findings suggest AP1S2 mutations contribute to a broad spectrum of neurodevelopmental disorders and are important in the etiological spectrum of PGS.


AP1S2 gene;X-linked mental retardation;Chinese pedigree

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