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Is diagnosing cardio-facio-cutaneous (CFC) syndrome still a challenge? Delineation of the phenotype in 15 Polish patients with proven mutations, including novel mutations in the BRAF1 gene

Author:
El偶bieta Ciaraa   1   Magdalena Pelca   1   Dorota Jurkiewicza   Monika Kugaudoa   b   Dorota Gieruszczak-Bia艂eka   c   Agata Skórkaa   c   Renata Posmykd   Anna Jakubiuk-Tomaszuke   f   Agata Cie艣likowskaa   Krystyna H. Chrzanowskaa   Aleksandra Jezela-Staneka   jezela@gmail.com" class="auth_mail" title="E-mail the corresponding author   Ma艂gorzata Krajewska-Walaseka  


Journal:
European Journal of Medical Genetics


Issue Date:
2015


Abstract(summary):

Cardio-facio-cutaneous (CFC) syndrome is characterized by a variable degree of developmental delay and congenital anomalies, including characteristic facial, cardiac, and ectodermal abnormalities. It is caused by activating mutations in the Ras/mitogen-activated protein kinase (MAPK) signaling pathway. In, however, approximately 10%–30% of individuals with a clinical diagnosis of CFCS, no mutation of the causative gene is found. Therefore, clinical studies in patients with the CFCS spectrum are valuable. To investigate the phenotypic spectrum and molecular diversity of germline mutations affecting genes encoding serine/threonine kinases, a group of 15 children and young adults with a diagnosis of CFCS was screened. We documented three novel mutations in the BRAF gene and correlated clinical findings with causative mutations in the BRAF or MEK1/MEK2 genes.


Page:
14-20


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