دورية أكاديمية
ERF-related craniosynostosis: The phenotypic and developmental profile of a new craniosynostosis syndrome.
| العنوان: | ERF-related craniosynostosis: The phenotypic and developmental profile of a new craniosynostosis syndrome. |
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| المؤلفون: | Glass GE; Department of Surgery, Sidra Medicine, Doha, Qatar.; Division of Clinical Surgery, Weill Cornell Medical College, Doha, Qatar., O'Hara J; Department of Craniofacial Surgery, Great Ormond Street Hospital, London, United Kingdom., Canham N; North West Thames Regional Genetics Service, Kennedy Galton Centre, Northwick Park and St. Mark's Hospitals, Harrow, United Kingdom., Cilliers D; Clinical Genetics Service, Oxford Centre for Genomic Medicine, Oxford University Hospitals NHS Foundation Trust, Nuffield Orthopedic Centre, Oxford, United Kingdom., Dunaway D; Department of Craniofacial Surgery, Great Ormond Street Hospital, London, United Kingdom., Fenwick AL; Clinical Genetics Group, MRC Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, United Kingdom., Jeelani NO; Department of Surgery, Sidra Medicine, Doha, Qatar.; Department of Craniofacial Surgery, Great Ormond Street Hospital, London, United Kingdom., Johnson D; Craniofacial Unit, Department of Plastic and Reconstructive Surgery, Oxford University Hospitals NHS Trust, John Radcliffe Hospital, Oxford, United Kingdom., Lester T; Oxford Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, The Churchill Hospital, Oxford, United Kingdom., Lord H; Oxford Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, The Churchill Hospital, Oxford, United Kingdom., Morton JEV; Department of Clinical Genetics, West Midlands Regional Clinical Genetics Service and Birmingham Health Partners, Birmingham, United Kingdom.; Department of Clinical Genetics, Birmingham Women's and Children's Hospitals, NHS Foundation Trust, Birmingham, United Kingdom., Nishikawa H; Department of Craniofacial Surgery, Birmingham Children's Hospital, Birmingham, United Kingdom., Noons P; Department of Clinical Genetics, West Midlands Regional Clinical Genetics Service and Birmingham Health Partners, Birmingham, United Kingdom.; Department of Clinical Genetics, Birmingham Women's and Children's Hospitals, NHS Foundation Trust, Birmingham, United Kingdom., Schwiebert K; Department of Clinical & Academic Ophthalmology, Great Ormond Street Hospital, London, United Kingdom., Shipster C; Department of Craniofacial Surgery, Great Ormond Street Hospital, London, United Kingdom., Taylor-Beadling A; Molecular Genetics Laboratory, North East Thames Regional Genetics Service, Great Ormond Street Hospital, London, United Kingdom., Twigg SRF; Clinical Genetics Group, MRC Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, United Kingdom., Vasudevan P; Department of Clinical Genetics, University Hospitals of Leicester, Glenfield Hospital, Leicester, United Kingdom., Wall SA; Craniofacial Unit, Department of Plastic and Reconstructive Surgery, Oxford University Hospitals NHS Trust, John Radcliffe Hospital, Oxford, United Kingdom., Wilkie AOM; Clinical Genetics Service, Oxford Centre for Genomic Medicine, Oxford University Hospitals NHS Foundation Trust, Nuffield Orthopedic Centre, Oxford, United Kingdom.; Clinical Genetics Group, MRC Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, United Kingdom.; Craniofacial Unit, Department of Plastic and Reconstructive Surgery, Oxford University Hospitals NHS Trust, John Radcliffe Hospital, Oxford, United Kingdom., Wilson LC; Clinical Genetics Service, Great Ormond Street Hospital, London, United Kingdom. |
| المصدر: | American journal of medical genetics. Part A [Am J Med Genet A] 2019 Apr; Vol. 179 (4), pp. 615-627. Date of Electronic Publication: 2019 Feb 13. |
| نوع المنشور: | Journal Article; Research Support, Non-U.S. Gov't |
| اللغة: | English |
| بيانات الدورية: | Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE |
| أسماء مطبوعة: | Publication: Hoboken, N.J. : Wiley-Blackwell Original Publication: Hoboken, N.J. : Wiley-Liss, c2003- |
| مواضيع طبية MeSH: | Mutation*, Craniosynostoses/*genetics , Craniosynostoses/*pathology , Repressor Proteins/*genetics, Adolescent ; Adult ; Age of Onset ; Child ; Child, Preschool ; Female ; Humans ; Infant ; Infant, Newborn ; Male ; Phenotype ; Syndrome ; Young Adult |
| مستخلص: | Mutations in the ERF gene, coding for ETS2 repressor factor, a member of the ETS family of transcription factors cause a recently recognized syndromic form of craniosynostosis (CRS4) with facial dysmorphism, Chiari-1 malformation, speech and language delay, and learning difficulties and/or behavioral problems. The overall prevalence of ERF mutations in patients with syndromic craniosynostosis is around 2%, and 0.7% in clinically nonsyndromic craniosynostosis. Here, we present findings from 16 unrelated probands with ERF-related craniosynostosis, with additional data from 20 family members sharing the mutations. Most of the probands exhibited multisutural (including pan-) synostosis but a pattern involving the sagittal and lambdoid sutures (Mercedes-Benz pattern) predominated. Importantly the craniosynostosis was often postnatal in onset, insidious and progressive with subtle effects on head morphology resulting in a median age at presentation of 42 months among the probands and, in some instances, permanent visual impairment due to unsuspected raised intracranial pressure (ICP). Facial dysmorphism (exhibited by all of the probands and many of the affected relatives) took the form of orbital hypertelorism, mild exorbitism and malar hypoplasia resembling Crouzon syndrome but, importantly, a Class I occlusal relationship. Speech delay, poor gross and/or fine motor control, hyperactivity and poor concentration were common. Cranial vault surgery for raised ICP and/or Chiari-1 malformation was expected when multisutural synostosis was observed. Variable expressivity and nonpenetrance among genetically affected relatives was encountered. These observations form the most complete phenotypic and developmental profile of this recently identified craniosynostosis syndrome yet described and have important implications for surgical intervention and follow-up. (© 2019 The Authors. American Journal of Medical Genetics Part A published by Wiley Periodicals, Inc.) |
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| معلومات مُعتمدة: | 102731 United Kingdom WT_ Wellcome Trust; 102731/Z/13/Z United Kingdom WT_ Wellcome Trust; United Kingdom WT_ Wellcome Trust |
| فهرسة مساهمة: | Keywords: Chiari-1 malformation; ERF; craniosynostosis; facial dysmorphism; intracranial pressure; phenotype |
| المشرفين على المادة: | 0 (ERF protein, human) 0 (Repressor Proteins) |
| تواريخ الأحداث: | Date Created: 20190214 Date Completed: 20200422 Latest Revision: 20240214 |
| رمز التحديث: | 20240214 |
| مُعرف محوري في PubMed: | PMC6491982 |
| DOI: | 10.1002/ajmg.a.61073 |
| PMID: | 30758909 |
| قاعدة البيانات: | MEDLINE |
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