دورية أكاديمية
Craniosynostosis in 10q26 deletion patients: A consequence of brain underdevelopment or altered suture biology?
| العنوان: | Craniosynostosis in 10q26 deletion patients: A consequence of brain underdevelopment or altered suture biology? |
|---|---|
| المؤلفون: | Faria ÁC; Programa de Graduação em Biotecnologia, Centro de Ciências da Saúde, Universidade Federal do Espírito Santo (UFES), Vitória, Espírito Santo, Brasil.; Laboratório de Genética Humana e Molecular, Centro de Pesquisa ICALP, Escola Superior de Ciências da Santa Casa de Misericórdia (EMESCAM), Vitória, Espírito Santo, Brasil., Rabbi-Bortolini E; Laboratório de Genética e Biologia Molecular, Associação Educacional de Vitória, Vitória, Espírito Santo, Brasil., Rebouças MRGO; Divisão de Genética Clínica, Hospital Estadual Infantil Nossa Senhora da Glória (HEINSG), Vitória, Espírito Santo, Brasil., de S Thiago Pereira ALA; Unidade de Neonatologia, Hospital Santa Casa de Misericórdia, Vitória, Espírito Santo, Brasil., Frasson MGT; Unidade de Neonatologia, Hospital Santa Casa de Misericórdia, Vitória, Espírito Santo, Brasil., Atique R; Centro de Pesquisas Sobre o Genoma Humano e Células Tronco, Departamento de Genética e Biologia Evolutiva, Instituto De Biociências, Universidade de São Paulo (USP), São Paulo, São Paulo, Brasil., Lourenço NCV; Centro de Pesquisas Sobre o Genoma Humano e Células Tronco, Departamento de Genética e Biologia Evolutiva, Instituto De Biociências, Universidade de São Paulo (USP), São Paulo, São Paulo, Brasil., Rosenberg C; Centro de Pesquisas Sobre o Genoma Humano e Células Tronco, Departamento de Genética e Biologia Evolutiva, Instituto De Biociências, Universidade de São Paulo (USP), São Paulo, São Paulo, Brasil., Kobayashi GS; Centro de Pesquisas Sobre o Genoma Humano e Células Tronco, Departamento de Genética e Biologia Evolutiva, Instituto De Biociências, Universidade de São Paulo (USP), São Paulo, São Paulo, Brasil., Passos-Bueno MR; Centro de Pesquisas Sobre o Genoma Humano e Células Tronco, Departamento de Genética e Biologia Evolutiva, Instituto De Biociências, Universidade de São Paulo (USP), São Paulo, São Paulo, Brasil., Errera FIV; Programa de Graduação em Biotecnologia, Centro de Ciências da Saúde, Universidade Federal do Espírito Santo (UFES), Vitória, Espírito Santo, Brasil.; Laboratório de Genética Humana e Molecular, Centro de Pesquisa ICALP, Escola Superior de Ciências da Santa Casa de Misericórdia (EMESCAM), Vitória, Espírito Santo, Brasil. |
| المصدر: | American journal of medical genetics. Part A [Am J Med Genet A] 2016 Feb; Vol. 170A (2), pp. 403-409. Date of Electronic Publication: 2015 Nov 14. |
| 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: | Chromosome Deletion*, Brain/*abnormalities , Chromosomes, Human, Pair 10/*genetics , Craniosynostoses/*etiology , Learning Disabilities/*etiology , Sutures/*adverse effects, Adult ; Brain/pathology ; Comparative Genomic Hybridization ; Craniosynostoses/pathology ; Facies ; Female ; Humans ; Infant, Newborn ; Learning Disabilities/pathology ; Male ; Prognosis |
| مستخلص: | Approximately a hundred patients with terminal 10q deletions have been described. They present with a wide range of clinical features always accompanied by delayed development, intellectual disability and craniofacial dysmorphisms. Here, we report a girl and a boy with craniosynostosis, developmental delay and other congenital anomalies. Karyotyping and molecular analysis including Multiplex Ligation dependent probe amplification (MLPA) and Array Comparative Genomic Hybridization (aCGH) were performed in both patients. We detected a 13.1 Mb pure deletion at 10q26.12-q26.3 in the girl and a 10.9 Mb pure deletion at 10q26.13-q26.3 in the boy, both encompassing about 100 genes. The clinical and molecular findings in these patients reinforce the importance of the DOCK1 smallest region of overlap I (SRO I), previously suggested to explain the clinical signs, and together with a review of the literature suggest a second 3.5 Mb region important for the phenotype (SRO II). Genotype-phenotype correlations and literature data suggest that the craniosynostosis is not directly related to dysregulated signaling in suture development, but may be secondary to alterations in brain development instead. Further, genes at 10q26 may be involved in the molecular crosstalk between brain and cranial vault. (© 2015 Wiley Periodicals, Inc.) |
| فهرسة مساهمة: | Keywords: 10q26; EBF3; HMX2; HMX3; array CGH; brain development; craniofacial dysmorphisms; synostosis |
| SCR Disease Name: | Chromosome 10q26 Deletion Syndrome |
| تواريخ الأحداث: | Date Created: 20151115 Date Completed: 20161025 Latest Revision: 20200930 |
| رمز التحديث: | 20221213 |
| DOI: | 10.1002/ajmg.a.37448 |
| PMID: | 26566760 |
| قاعدة البيانات: | MEDLINE |
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