Τίτλος:
Three Novel Mutations in Greek Sotos Patients with Rare Clinical
Manifestations
Γλώσσες Τεκμηρίου:
Αγγλικά
Περίληψη:
Background: Sotos syndrome is an autosomal dominant disease
characterized by tall stature, advanced bone age, typical morphological
abnormalities of the face and developmental delay. It is caused by
mutations in the NSD1 gene located on chromosome 5. NSD1 mutations are
detected in the majority of the Sotos patients, and include intragenic
NSD1 mutations and microdeletions in the 5q35 region. Cardiovascular and
urogenital symptoms are more frequent in the microdeletion group.
Methods: Mutation analysis was performed in 4 patients with Sotos
syndrome with typical phenotypic characteristics. Results: In each of
the 4 patients a NSD1 mutation was found (2 frame shifts, 1 nonsense and
1 missense mutation). Two of our patients presented dysplastic kidneys
with cysts and psychosis, respectively. Conclusions: We describe 4 Greek
patients with Sotos syndrome. Apart from the typical phenotypic
characteristics, 2 of our patients presented rare clinical
manifestations such as dysplastic kidneys and psychosis. The 3 detected
mutations are novel. Copyright (C) 2008 S. Karger AG, Basel
Συγγραφείς:
Leventopoulos, George
Kitsiou-Tzeli, Sophia
Psoni, Stavroula and
Mavrou, Ariadni
Kanavakis, Emmanuel
Willems, Patrick and
Fryssira, Helen
Περιοδικό:
Frontiers of Hormone Research
Λέξεις-κλειδιά:
Sotos syndrome; NSD1 mutations; Dysplastic renal cysts; Psychosis
