Erika Leenders, Fieke Draaisma, Corrie E Erasmus, Catelijne Coppens, Lotte E R Kleimeier, Melanie Burgers, Tuula Rinne, Martin Zenker, Laura Mazzanti, Wesley Reintjes, Nens van Alfen, Jos M T Draaisma
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引用次数: 0
Abstract
Noonan syndrome is a genetic multisystem congenital disorder, caused by pathogenic variants in genes that encode components of the RAS/MAPK signaling pathway. Pathogenic variants in SOS2 represent less than 2% of cases with NS. The phenotype includes a particularly high prevalence (65%) of lymphatic disease. Recently, severe nerve enlargements were described in patients with a pathogenic variant in SOS2. To establish the occurrence of nerve enlargements in SOS2-related Noonan syndrome, we retrospectively analyzed the data of all six patients with SOS2-related Noonan syndrome at our center. All patients had undergone high-resolution nerve ultrasound for clinical reasons, and all had enlarged nerves, most of them severe. All of our patients and the three patients with enlarged nerves described in three published case series have an amino acid substitution at p.Met267.
期刊介绍：
The American Journal of Medical Genetics - Part A (AJMG) gives you continuous coverage of all biological and medical aspects of genetic disorders and birth defects, as well as in-depth documentation of phenotype analysis within the current context of genotype/phenotype correlations. In addition to Part A , AJMG also publishes two other parts:
Part B: Neuropsychiatric Genetics , covering experimental and clinical investigations of the genetic mechanisms underlying neurologic and psychiatric disorders.
Part C: Seminars in Medical Genetics , guest-edited collections of thematic reviews of topical interest to the readership of AJMG .
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