Tatton-Brown, K., Rahman, N. (2004) Features of NSD1-positive Sotos syndrome. CLINICAL DYSMORPHOLOGY, 13 (4). pp. 199-204. ISSN 0962-8827

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Abstract

Features of NSD1-positive Sotos syndrome It is 40 years since the first case of Sotos syndrome was reported. For most of the past four decades the diagnosis of Sotos syndrome has been dependent on the subjective evaluation of clinical criteria, primarily whether the facial gestalt is present. The recent identification of NSD1 (Nuclear receptor- binding SET domain containing protein) mutations and deletions in the great majority of Sotos syndrome cases has allowed re- evaluation of defining and associated features of the condition. In this review we will present the clinical features of Sotos syndrome cases with proven abnormalities in NSD1. This has allowed redefinition of Sotos syndrome as a condition characterised by a typical facial gestalt, macrocephaly and learning difficulties. Childhood overgrowth, advanced bone age, cardiac and genitourinary anomalies, neonatal jaundice, neonatal hypotonia, seizures and scoliosis are all fairly common in children with Sotos syndrome. A mutation or microdeletion of NSD1 is diagnostic of Sotos syndrome. (C) 2004 Lippincott Williams Wilkins.

Item Type:	Review Article
Authors (ICR Faculty only):	Rahman, Sabera Nazneen
All Authors:	Tatton-Brown, K., Rahman, N.
Uncontrolled Keywords:	Sotos; NSD1; overgrowth; histone methyltransferase Syndrome cerebral gigantism; beckwith-wiedemann-syndrome; nsd1 mutations; overgrowth phenotypes; clinical-features; patient; haploinsufficiency; carcinoma; sequence; growth
Research teams:	ICR divisions > Breast Cancer Research > Genetic Susceptibility ICR divisions > Genetics and Epidemiology > Genetic Susceptibility
Date Deposited:	10 Aug 2007 21:05
Last Modified:	07 May 2015 12:32
URI:	http://publications.icr.ac.uk/id/eprint/3772

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