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• W2068479112 abstract "I met Prof. Neri for the first time in July of 2000 in Salt Lake City, Utah, at the first CFC family meeting. Having met and spent a weekend with so many patients of a rare condition and their families was so inspiring that we could not avoid but think about what could be done to better characterize, diagnose, understand the molecular cause, and possible treatments for the CFC patients. Subsequently, Prof. Opitz suggested that while he was taking a sabbatical year in Rome, Prof. Neri and I should do some work together to revise 20 CFC patients that I had been following in Brazil. This was at the Medical Genetic Center of the Federal University of Sao Paulo, where I was the dermatologist of the group. In September of 2001, Italy, Rome, and the Institute of Medical Genetics at the Catholic University were my home and under the supervision of Prof. Neri our CFC work started. My memories of working with Professor Giovanni Neri started with the history of the cardiofaciocutaneous syndrome. Prof. Neri's was one of the main co-authors of the first published description of CFC syndrome as a seemingly new syndrome, work from the Montana group of Prof. Opitz in the early 1980s, when Prof. Neri was working there (Fig. 1). The article in the American Journal of Medical Genetics, described eight patients presenting with unusual facial features, cardiac defect, short stature, developmental delay, failure to thrive, intellectual impairment, and dermatologic abnormalities. The authors proposed the name Cardiofaciocutaneous syndrome [Reynolds et al., 1986]. Soon thereafter, Prof. Neri described the first two European cases of CFC, who surely were from Italy [Neri et al., 1987]. As CFC and Noonan syndromes share many phenotypic characteristics, it was discussed for many years among geneticists, whether CFC and Noonan syndrome were separate entities or not. In 1991, Prof. Neri, wrote a seminal contribution about the Noonan-CFC controversy, and concluded that they were indeed distinct and separate conditions, but both should be considered to fall within a broad and causally heterogeneous spectrum of the entities [Neri et al., 1991]. In July 2000, for the first time a group of families and physicians got together for a dedicated CFC meeting during which lectures were provided and CFC patients were examined (Fig. 2). A Medical Advisory Board for the CFC family support group was established and surely Prof. Neri was one of its constitutional members. The support group is nowadays called CFC International and is still gathering every other year. As everyone agreed that despite the many similarities between Noonan, CFC and Costello syndromes they were separate conditions, Prof. Neri emphasized that it would be paramount to establish reliable clinical diagnoses in a large cohort of individuals to gather bona fide groups necessary for the molecular characterization of the syndromes. In 2002, after the finding of mutations in PTPN11 as a causative gene for Noonan syndrome [Tartaglia et al., 2001], we sequenced at Prof. Neri's laboratory the entire coding regions of PTPN11 in 10 bona fide CFC patients and did not find any mutations, corroborating the idea that CFC and Noonan syndromes are separate entities [Kavamura et al., 2003]. As a result of a combined effort of various specialists led by Prof. Neri, a comprehensive review on CFC was published in 2006, including the follow up on 6 of the original cases published in 1986 as first report on the natural history of CFC syndrome [Roberts et al., 2006]. The report represented the joint experiences of the various specialists from the CFC Medical Advisory Board, who had seen hundreds of CFC patients both in their clinical practices and in the CFC family meetings. After the finding of mutations in several genes as cause of the CFC syndrome [Niihori et al., 2006 and Rodriguez-Viciana et al., 2006], but also reports of genes causing Costello syndrome [Aoki et al., 2005] and more genes causing Noonan syndrome [Schubbert et al., 2006; Pandit et al., 2007; Razzaque et al., 2007; Roberts et al., 2007; Tartaglia et al., 2007], it was clear that all encoded proteins acting in the same metabolic pathway: the Rasopathies. Further nosological discussions were added as to the classification of the entities. Prof. Neri contributed to this discussion by stating that there is no reason to change the diagnostic criteria for Noonan, Costello and CFC syndromes [Neri et al., 2008]. As a member of CFC International Medical Advisory Board, Prof. Neri has been of great importance in many spheres, technically, by examining new and challenging cases and by educating the families on the medical issues CFC syndrome can cause; emotionally, by sharing his long medical and life experiences with CFC patients and their families, and as therapeutic advances become a possibility, Prof. Neri has a large knowledge on the application of clinical trials in genetic disorders to share with the CFC community. Even though we are not working together at the moment, the lessons learnt with Prof. Neri are very vivid in my life. Ethics and deep respect for the patients and their families, along with very careful clinical examinations are the main lessons I learnt with him, lessons for which I needed more than books, I needed a passionate physician to teach me this." @default.
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• W2068479112 date "2013-10-24" @default.
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• W2068479112 title "My memories of Professor Giovanni Neri: The cardiofaciocutaneous syndrome (CFC)" @default.
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