Severe developmental delay and complete agenesis of corpus callosum in a Noonan syndrome patient with SOS1 mutation
- 01.06.2016
- Letter to the Editor
Erschienen in:
- Verfasst von
- Debopam Samanta
- Erschienen in
- Acta Neurologica Belgica | Ausgabe 2/2016
Auszug
Noonan syndrome (NS) is a common heterogeneous genetic disorder. Diagnosis is based on characteristic findings of distinctive facial features, short stature, chest deformity, and congenital heart disease. PTPN11 and KRAS mutations are seen in half of the NS patients. A mutation in SOS1 is another important genetic cause of NS. The SOS1 protein regulates cellular proliferation, differentiation, and apoptosis by controlling protein Ras and RAS/MAPK signaling pathway. Noonan syndrome patients with SOS1 mutation have distinctive phenotype of normal development and linear growth [1]. A large series by Tartaglia only showed one patient with intellectual impairment with an SOS1 mutation which was potentially attributable to critical illness during newborn period [2]. In contrast, approximately 1/3rd of NS patients from other genetic mutations need special education for intellectual impairment. We report an infant with NS who has severe developmental delay and complete agenesis of corpus callosum (ACC). …
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- Titel
- Severe developmental delay and complete agenesis of corpus callosum in a Noonan syndrome patient with SOS1 mutation
- Verfasst von
-
Debopam Samanta
- Publikationsdatum
- 01.06.2016
- Verlag
- Springer International Publishing
- Erschienen in
-
Acta Neurologica Belgica / Ausgabe 2/2016
Print ISSN: 0300-9009
Elektronische ISSN: 2240-2993 - DOI
- https://doi.org/10.1007/s13760-015-0526-9
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