A novel Xp22.11 deletion causing a syndrome of craniosynostosis and periventricular nodular heterotopia

Margriet van Kogelenberg, Margherita Lerone, Teresa De Toni, Maria T. Divizia, Arjan P M de Brouwer, Joris A. Veltman, Hans van Bokhoven, Stephen P. Robertson

Research output: Contribution to journalArticlepeer-review

Abstract

We report on a follow-up evaluation of a male with a phenotype including craniosynostosis, periventricular nodular heterotopia, and neurodevelopmental delay. He was initially assigned a clinical diagnosis of Fontaine-Farriaux syndrome (FFS) as an infant although now, with improved delineation of this entity, it is evident that this diagnosis is not applicable to this individual. Array comparative genomic hybridization has demonstrated a 300kb interstitial deletion on Xp22.11 affecting all or part of three annotated genes, ZFX, PDK3, and PCYT1B in this subject. The deletion was inherited from the phenotypically normal mother who also exhibited markedly skewed X-inactivation. These findings implicate hemizygosity for one or all three of these genes as the cause of this phenotype.

Original languageEnglish
Pages (from-to)3144-3147
Number of pages4
JournalAmerican Journal of Medical Genetics, Part A
Volume155
Issue number12
DOIs
Publication statusPublished - Dec 2011

Keywords

  • Craniosynostosis
  • Fontaine-Farriaux syndrome
  • Periventricular nodular heterotopia
  • X chromosomal interstitial deletion

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics

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