Copy number variation analysis in single-suture craniosynostosis: Multiple rare variants including RUNX2 duplication in two cousins with metopic craniosynostosis
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چکیده
منابع مشابه
Copy Number Variation Analysis in Single-Suture Craniosynostosis: Multiple Rare Variants Including RUNX2 Duplication in Two Cousins With Metopic Craniosynostosis
Little is known about genes that underlie isolated single-suture craniosynostosis. In this study, we hypothesize that rare copy number variants (CNV) in patients with isolated single-suture craniosynostosis contain genes important for cranial development. Using whole genome array comparative genomic hybridization (CGH), we evaluated DNA from 186 individuals with single-suture craniosynostosis f...
متن کاملMSX2 copy number increase and craniosynostosis: copy number variation detected by array comparative genomic hybridization
Karla de Oliveira Pelegrino, Sofia Sugayama, Karina Lezirovitz, Ana Lúcia Catelani, Fernando Kok, Maria de Lourdes Chauffaille I Instituto de Pesquisa e Desenvolvimento, Grupo Fleury, São Paulo/SP, Brazil. II Hospital das Clı́nicas da Faculdade de Medicina da Universidade de São Paulo, Departamento de Pediatria, São Paulo/SP, Brazil. III Hospital das Clı́nicas da Faculdade de Medicina da Universi...
متن کاملSingle-suture craniosynostosis: a review of neurobehavioral research and theory.
OBJECTIVE To review research and theory regarding the neurobehavioral correlates and outcomes of single-suture, or isolated, craniosynostosis in children. METHODS A critical review of 17 studies of the hypothesized association between isolated craniosynostosis and neurodevelopment. RESULTS Isolated craniosynostosis is associated with a three- to fivefold increase in risk for cognitive defic...
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RAS/MAPK pathway germline mutations were described in Rasopathies, a class of rare genetic syndromes combining facial abnormalities, heart defects, short stature, skin and genital abnormalities, and mental retardation. The majority of the mutations identified in the Rasopathies are point mutations which increase RAS/MAPK pathway signaling. Duplications encompassing RAS/MAPK pathway genes (PTPN1...
متن کاملNeurodevelopment in children with single-suture craniosynostosis and plagiocephaly without synostosis.
The objective of this study was to determine whether children with nonsyndromic craniosynostosis and plagiocephaly without synostosis demonstrated cognitive and psychomotor delays when compared with a standardized population sample. This was the initial assessment of a larger prospective study, which involved 21 subjects with nonsyndromic craniosynostosis (mean age, 10.9 months) and 42 subjects...
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ژورنال
عنوان ژورنال: American Journal of Medical Genetics Part A
سال: 2010
ISSN: 1552-4825
DOI: 10.1002/ajmg.a.33557