Dataset Information

Dissection of the MYCN locus in Feingold syndrome and isolated oesophageal atresia.

ABSTRACT: Feingold syndrome (FS) is a syndromic microcephaly entity for which MYCN is the major disease-causing gene. We studied the expression pattern of MYCN at different stages of human embryonic development and collected a series of 17 FS and 12 isolated oesophageal atresia (IOA) cases. An MYCN gene deletion/mutation was identified in 47% of FS cases exclusively. We hypothesized that mutations or deletions of highly conserved non-coding elements (HCNEs) at the MYCN locus could lead to its misregulation and thereby to FS and/or IOA. We subsequently sequenced five HCNEs at the MYCN locus and designed a high-density tiling path comparative genomic hybridization array of 3.3 Mb at the MYCN locus. We found no mutations or deletions in this region, supporting the hypothesis of genetic heterogeneity in FS.

SUBMITTER: Cognet M

PROVIDER: S-EPMC3083612 | biostudies-literature | 2011 May

REPOSITORIES: biostudies-literature

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Dissection of the MYCN locus in Feingold syndrome and isolated oesophageal atresia.

Cognet Marie M Nougayrede Agnés A Malan Valérie V Callier Patrick P Cretolle Celia C Faivre Laurence L Genevieve David D Goldenberg Alice A Heron Delphine D Mercier Sandra S Philip Nicole N Sigaudy Sabine S Verloes Alain A Sarnacki Sabine S Munnich Arnold A Vekemans Michel M Lyonnet Stanislas S Etchevers Heather H Amiel Jeanne J de Pontual Loïc L

European journal of human genetics : EJHG 20110112 5

Feingold syndrome (FS) is a syndromic microcephaly entity for which MYCN is the major disease-causing gene. We studied the expression pattern of MYCN at different stages of human embryonic development and collected a series of 17 FS and 12 isolated oesophageal atresia (IOA) cases. An MYCN gene deletion/mutation was identified in 47% of FS cases exclusively. We hypothesized that mutations or deletions of highly conserved non-coding elements (HCNEs) at the MYCN locus could lead to its misregulatio ...[more]

PMID: 21224895

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Project description:PurposeThe COVID-19 pandemic has resulted in a global health crisis of unparalleled magnitude. The direct risk to the health of children is low. However, disease-containment measures have society-wide impacts. This study explored the pandemic experiences of parents of children with oesophageal atresia/tracheo-oesophageal fistula (OA/TOF) in the UK.DesignA phenomenological approach underpinned use of an asynchronous online forum method, in collaboration with a patient support group. Data were evaluated using thematic analysis.ResultsThe online forum ran between 7 November and 18 December 2020 with 109 participants.Pandemic experiences were divided into themes relating to healthcare and disease containment. Participants described positive experiences with remote healthcare but identified limitations. Delays and cancellations led to escalation of care to an emergency level, slower developmental progress and feelings of being abandoned by services. Inpatient care was perceived as safe but caring alone was emotionally and practically challenging. Disease containment themes revealed anxiety regarding health risks, 'collateral' damage to well-being because of isolation, and an impact on finances and employment. Parents described a transition from worry about direct health risks to concern about the impact of isolation on socialisation and development. A process of risk-benefit analysis led some to transition to a more 'normal life', while others continued to isolate. Benefits to their child's health from isolation were reported.ConclusionsParents' experiences of caring for a child with OA/TOF during the pandemic were varied. Rapid adoption of telehealth has demonstrated the enormous potential of remote healthcare delivery but requires refinement to meet the needs of the individual. Future pandemic planning should aim to retain community healthcare services to avoid escalation of care to an emergency, manage chronic and developmental concerns, and support parental well-being. Accurate and consistent disease-specific information is highly valued by parents. Third sector organisations are ideally positioned to support this.

Dataset Information

Dissection of the MYCN locus in Feingold syndrome and isolated oesophageal atresia.

Publications

Dissection of the MYCN locus in Feingold syndrome and isolated oesophageal atresia.

Similar Datasets

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