title: A novel Xp22.11 deletion causing a syndrome of craniosynostosis and periventricular nodular heterotopia.
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 300  kb 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.
authors: Department of Paediatrics and Child Health, Dunedin School of Medicine, Otago University, Dunedin, New Zealand.
authors: Margriet
authors: M
authors: van Kogelenberg
authors: Margherita
authors: M
authors: Lerone
authors: Teresa
authors: T
authors: De Toni
authors: Maria T
authors: MT
authors: Divizia
authors: Arjan P M
authors: AP
authors: de Brouwer
authors: Joris A
authors: JA
authors: Veltman
authors: Hans
authors: H
authors: van Bokhoven
authors: Stephen P
authors: SP
authors: Robertson
mesh_terms: D002648:Child; D002675:Child, Preschool; D019916:Choline-Phosphate Cytidylyltransferase / Q000235:genetics; D002872:Chromosome Deletion; D041321:Chromosomes, Human, X; D003398:Craniosynostoses / Q000175:diagnosis / Q000235:genetics*; D019066:Facies; D006801:Humans; D007223:Infant; D051741:Kruppel-Like Transcription Factors / Q000235:genetics; D008297:Male; D054091:Periventricular Nodular Heterotopia / Q000175:diagnosis / Q000235:genetics*; D010641:Phenotype; D017346:Protein Serine-Threonine Kinases / Q000235:genetics; D000081382:Pyruvate Dehydrogenase Acetyl-Transferring Kinase; D013577:Syndrome
chemical_list: D051741:Kruppel-Like Transcription Factors; C000631431:PDK3 protein, human; D000081382:Pyruvate Dehydrogenase Acetyl-Transferring Kinase; C062076:zinc finger protein, X-linked; D017346:Protein Serine-Threonine Kinases; D019916:Choline-Phosphate Cytidylyltransferase; C545697:PCYT1B protein, human