De novo PIK3R2 variant causes polymicrogyria, corpus callosum hyperplasia and focal cortical dysplasia View Full Text


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

2016-09

AUTHORS

Gaetano Terrone, Norine Voisin, Ali Abdullah Alfaiz, Gerarda Cappuccio, Giuseppina Vitiello, Nicolas Guex, Alessandra D'Amico, A James Barkovich, Nicola Brunetti-Pierri, Ennio Del Giudice, Alexandre Reymond

ABSTRACT

We report an 8-year-old boy with a complex cerebral malformation, intellectual disability, and complex partial seizures. Whole-exome sequencing revealed a yet unreported de novo variant in the PIK3R2 gene that was recently associated with megalencephaly-polymicrogyria-polydactyly-hydrocephalus (MPPH) syndrome and bilateral perisylvian polymicrogyria (BPP). Our patient showed cerebral abnormalities (megalencephaly, perisylvian polymicrogyria, and mega corpus callosum) that were consistent with these conditions. Imaging also showed right temporal anomalies suggestive of cortical dysplasia. Until now, only three variants (c.1117G>A (p.(G373R)), c.1126A>G (p.(K376E)) and c.1202T>C (p.(L401P))) affecting the SH2 domain of the PIK3R2 protein have been reported in MPPH and BPP syndromes. In contrast to the variants reported so far, the patient described herein exhibits the c.1669G>C (p.(D557H)) variant that affects a highly conserved residue at the interface with the PI3K catalytic subunit α. The phenotypic spectrum associated with variants in this gene and its pathway are likely to continue to expand as more cases are identified. More... »

PAGES

1359-1362

Identifiers

URI

http://scigraph.springernature.com/pub.10.1038/ejhg.2016.7

DOI

http://dx.doi.org/10.1038/ejhg.2016.7

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1020494392

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/26860062


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