Abstract
Katiane Sayão Souza Cabral3*, Luciana Inuzuka-Nakaharada3, Leandro Tavares Lucato2 and Fernando Kok1,3 Author Affiliations 1Mendelics Genomic Analysis, Brazil 2Department of Radiology, University of Sao Paulo (USP) School of Medicine, Brazil 3Department of Neurology, USP School of Medicine, Brazil Received: November 26, 2021 | Published: December 06, 2021 Corresponding author: Katiane Sayão Souza Cabral, Department of Neurology, USP School of Medicine, Sao Paulo, Brazil DOI: 10.26717/BJSTR.2021.40.006443
Highlights
The advance of gene sequencing techniques has made it possible to determine the genetic origin of an increasing number of central nervous system malformations which previously did not have a defined etiology
Pathogenic variants in PAFAH1B1, which have been widely associated with laminar heterotopia and lissencephaly, had never been linked to isolated Pontocerebellar hypoplasia (PCH)
PAFAH1B1, known as Lissencephaly 1 gene (LIS1), was the first gene identified as being related to lissencephaly, followed by X-linked doublecortin gene (DCX) [4]
Summary
Pathogenic variants in PAFAH1B1, which have been widely associated with laminar heterotopia and lissencephaly, had never been linked to isolated PCH. We present a case report in which this association was found. Does this case report bring a new phenotype for an “old” gene, or an “old” phenotype with a “new” gene?
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