A new missense mutation in DPF2 gene related to Coffin Siris syndrome 7: Description of a mild phenotype expanding DPF2-related clinical spectrum and differential diagnosis among similar syndromes epigenetically determined

Roberta Milone, Maria Gnazzo, Elena Stefanutti, Dorella Serafin, Antonio Novelli

Research output: Contribution to journalArticle

Abstract

BACKGROUND: Coffin-Siris syndrome (CSS) is a neurodevelopmental disorder characterized by somatic dysmorphic features, developmental and speech delay. It is due to mutations in many different genes, belonging to BAF chromatin-remodelling complex. The last gene involved in this complex, recently individuated and related to CSS, was DPF2, although only nine patients have been reported until now.

METHOD: Here we report on a boy with a history of developmental delay, especially regarding speech and language, and dysmorphic features resembling a syndromic condition. Array-Comparative Genomic Hybridization (CGH) and a custom Next Generation Sequencing (NGS) panel including developmental delay related genes were executed.

RESULTS: Array-CGH was negative while NGS panel revealed a novel mutation in DPF2 gene.

CONCLUSIONS: We add the clinical description of another patient with a novel mutation in DPF2, with a mild phenotype, thus trying to contribute to enlarge CSS phenotypic variability. Moreover, we briefly discuss about cohesinopathies and major differential diagnosis among syndromes with phenotypes overlapping to CSS.

Original languageEnglish
Pages (from-to)192-198
Number of pages7
JournalBrain and Development
Volume42
Issue number2
DOIs
Publication statusE-pub ahead of print - 2019

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