Periventricular nodular heterotopia in Smith-Magenis syndrome

Valeria Capra, Roberta Biancheri, Giovanni Morana, Pasquale Striano, Francesca Novara, Giovanni Battista Ferrero, Luca Boeri, Maria Elena Celle, Maria Margherita Mancardi, Orsetta Zuffardi, Elena Parrini, Renzo Guerrini

Research output: Contribution to journalArticlepeer-review

Abstract

Smith-Magenis syndrome (SMS) is caused by an interstitial microdeletion of chromosome 17p11.2. A few patients with the typical SMS phenotype have RAI1 gene mutations. The syndrome is characterized by minor craniofacial anomalies, short stature, sleep disturbances, behavioural and neurocognitive abnormalities, as well as variable multisystemic manifestations. Periventricular nodular heterotopia (PNH) is a genetically heterogeneous neuronal migration disorder characterized by subependymal heterotopic nodules, and is variably associated with other brain malformations, epileptic seizures and intellectual disability. Here we report on two patients harboring deletions of the 17p11.2 region in whom the SMS typical phenotype was associated with bilateral PNH. Our observations expand the spectrum of chromosomal rearrangements associated with PNH and indicate that abnormal neuronal migration may contribute to the neurocognitive phenotype of SMS.

Original languageEnglish
Pages (from-to)3142-3147
Number of pages6
JournalAmerican Journal of Medical Genetics, Part A
Volume164
Issue number12
DOIs
Publication statusPublished - Dec 1 2014

Keywords

  • 17p11.2 chromosomal deletion
  • Periventricular nodular heterotopia (PNH)
  • Smith-Magenis syndrome (SMS)

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics
  • Medicine(all)

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