Abstract

Noonan syndrome: Discovering new mutations?

Author(s): Marta Guzmán Pérez*, Joaquin Gomez Garrido, Gema Giner Merino, Pablo López Sanz

We present the case of a 50-year-old white male that was brought to the emergency services due to the presence of speech disturbances and drowsiness in the past four or five days. He did not have any other symptoms apart from those but in the physical examination, some clinical characteristics were identified and could suggest the existence of a genetic syndrome, such as: Short stature, low set and posteriorly rotated ears with fleshy helices, pterygium colli, superior pectus carinatum and inferior pectus excavatum, widely spaced nipples and kyphoscoliosis. Besides, he had some cardiac anomalies which had to be operated some years before. A massive sequencing study was carried out in order to identify genomic variants in specific genes for RASopathies. The variant identified in heterozygosity in the patient's sample (PTPN11 c.774G>C; p.Glu258Asp) is a variant of change of direction that had not been registered in the population databases (gnomAD) nor had it been previously described in the literature or in the databases consulted associated with a specific phenotype.

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