Dataset Information

Characterization of distinct classes of differential gene expression in osteoblast cultures from non-syndromic craniosynostosis bone.

ABSTRACT: Craniosynostosis, the premature fusion of one or more skull sutures, occurs in approximately 1 in 2500 infants, with the majority of cases non-syndromic and of unknown etiology. Two common reasons proposed for premature suture fusion are abnormal compression forces on the skull and rare genetic abnormalities. Our goal was to evaluate whether different sub-classes of disease can be identified based on total gene expression profiles. RNA-Seq data were obtained from 31 human osteoblast cultures derived from bone biopsy samples collected between 2009 and 2011, representing 23 craniosynostosis fusions and 8 normal cranial bones or long bones. No differentiation between regions of the skull was detected, but variance component analysis of gene expression patterns nevertheless supports transcriptome-based classification of craniosynostosis. Cluster analysis showed 4 distinct groups of samples; 1 predominantly normal and 3 craniosynostosis subtypes. Similar constellations of sub-types were also observed upon re-analysis of a similar dataset of 199 calvarial osteoblast cultures. Annotation of gene function of differentially expressed transcripts strongly implicates physiological differences with respect to cell cycle and cell death, stromal cell differentiation, extracellular matrix (ECM) components, and ribosomal activity. Based on these results, we propose non-syndromic craniosynostosis cases can be classified by differences in their gene expression patterns and that these may provide targets for future clinical intervention.

SUBMITTER: Rojas-Pena ML

PROVIDER: S-EPMC4150121 | biostudies-literature | 2014

REPOSITORIES: biostudies-literature

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Characterization of distinct classes of differential gene expression in osteoblast cultures from non-syndromic craniosynostosis bone.

Rojas-Peña Monica L ML Olivares-Navarrete Rene R Hyzy Sharon S Arafat Dalia D Schwartz Zvi Z Boyan Barbara D BD Williams Joseph J Gibson Greg G

Journal of genomics 20140801

Craniosynostosis, the premature fusion of one or more skull sutures, occurs in approximately 1 in 2500 infants, with the majority of cases non-syndromic and of unknown etiology. Two common reasons proposed for premature suture fusion are abnormal compression forces on the skull and rare genetic abnormalities. Our goal was to evaluate whether different sub-classes of disease can be identified based on total gene expression profiles. RNA-Seq data were obtained from 31 human osteoblast cultures der ...[more]

PMID: 25184005

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Project description:ObjectivesCraniosynostosis is typically diagnosed and surgically corrected within the first year of life. The diagnosis and surgical correction of the condition can be a very stressful experience for families. Despite this, there is little research exploring the impact that craniosynostosis has on families, especially in the period immediately following diagnosis and correction. In this study, the authors aimed to qualitatively examine the psychosocial experience of families with a child diagnosed with craniosynostosis.DesignQualitative study.SettingTertiary care paediatric health centre.ParticipantsMothers of children newly diagnosed with single-suture, non-syndromic craniosynostosis.InterventionSemistructured interviews regarding parental experience with the initial diagnosis, their decision on corrective surgery for their child, the operative experience, the impact of craniosynostosis on the family and the challenges they encountered throughout their journey.Primary and secondary outcome measuresThematic analysis, a type of qualitative analysis that provides an in-depth account of participant's experiences, was used to analyse the interview data.ResultsOver a 4-year period, 12 families meeting eligibility criteria completed the study. Three main themes (six subthemes) emerged from the preoperative interviews: frustration with diagnostic delays (parental intuition and advocacy, hope for improved awareness), understanding what to expect (healthcare supports, interest in connecting with other families) and justifying the need for corrective surgery (influence of the surgeon, struggle with cosmetic indications). Two main themes (four subthemes) were drawn from the postoperative interviews: overcoming fear (the role of healthcare professionals, transition home) and relief (reduction in parental anxiety, cosmetic improvements).ConclusionsOverall, the diagnosis of craniosynostosis has a profound impact on families, leading them to face many struggles throughout their journey. A better understanding of these experiences will help to inform future practice, with a hope to improve this experience for other families moving forward.

Dataset Information

Characterization of distinct classes of differential gene expression in osteoblast cultures from non-syndromic craniosynostosis bone.

Publications

Characterization of distinct classes of differential gene expression in osteoblast cultures from non-syndromic craniosynostosis bone.

Similar Datasets

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