Asymmetric polymicrogyria and periventricular nodular heterotopia due to mutation in ARX

American Journal of Medical Genetics. Part a
Renske OegemaGrazia M S Mancini

Abstract

Mutations in the ARX gene, at Xp22.3, cause several disorders, including infantile spasms, X-linked lissencephaly with abnormal genitalia (XLAG), callosal agenesis and isolated intellectual disability. Genotype/phenotype studies suggested that polyalanine tract expansion is associated with non-malformative phenotypes, while missense and nonsense mutations cause cerebral malformations, however, patients with structural normal brain and missense mutations have been reported. We report on a male patient born with cleft lip and palate who presented with infantile spasms and hemiplegia. MRI showed agenesis of corpus callosum (ACC), an interhemispheric cyst, periventricular nodular heterotopia (PVNH), and extensive left frontal polymicrogyria (PMG). Sequencing of the ARX gene in the patient identified a six basepair insertion (c.335ins6, exon 2). The insertion leads to a two-residue expansion of the first polyalanine tract and was described previously in a family with non-syndromic X-linked mental retardation. To our knowledge, ARX mutation causing PMG and PVNH is unique, but the spasms and ACC are common in ARX mutations. Clinicians should be aware of the broad clinical range of ARX mutations, and further studies are necessary to in...Continue Reading

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Citations

Sep 4, 2014·Annual Review of Genomics and Human Genetics·Wen F HuChristopher A Walsh
Jun 4, 2014·American Journal of Medical Genetics. Part C, Seminars in Medical Genetics·Chloe A Stutterd, Richard J Leventer
Jun 2, 2015·Molecular Genetics & Genomic Medicine·Isabel MarquesPaula Jorge
Aug 27, 2015·European Journal of Human Genetics : EJHG·Ching MoeyCheryl Shoubridge

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