Craniosynostosis in 10q26 deletion patients: A consequence of brain underdevelopment or altered suture biology?

Autor: Flavia Imbroisi Valle Errera, Ágatha Cristhina Faria, Naila Cristina Vilaça Lourenço, Gerson Shigeru Kobayashi, Maria Regina Galvêas Oliveira Rebouças, Eliete Rabbi-Bortolini, Andreia L. A. de S. Thiago Pereira, Milena G. Tonini Frasson, Carla Rosenberg, Rodrigo Atique, Maria Rita Passos-Bueno
Rok vydání: 2015
Předmět:
Zdroj: Repositório Institucional da USP (Biblioteca Digital da Produção Intelectual)
Universidade de São Paulo (USP)
instacron:USP
ISSN: 1552-4825
DOI: 10.1002/ajmg.a.37448
Popis: 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.
Databáze: OpenAIRE
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