The phenotype of Sotos syndrome in adulthood: A review of 44 individuals
Year: 2019
Type: article
Study design: Observational Study
Abstract: Sotos syndrome is an overgrowth-intellectual disability (OGID) syndrome caused by NSD1 pathogenic variants and characterized by a distinctive facial appearance, an intellectual disability, tall stature and/or macrocephaly. Other associated clinical features include scoliosis, seizures, renal anomalies, and cardiac anomalies. However, many of the published Sotos syndrome clinical descriptions are based on studies of children; the phenotype in adults with Sotos syndrome is not yet well described. Given that it is now 17 years since disruption of NSD1 was shown to cause Sotos syndrome, many of the children first reported are now adults. It is therefore timely to investigate the phenotype of 44 adults with Sotos syndrome and NSD1 pathogenic variants. We have shown that adults with Sotos syndrome display a wide spectrum of intellectual ability with functioning ranging from fully independent to fully dependent. Reproductive rates are low. In our cohort, median height in adult women is +1.9 SD and men +0.5 SD. There is a distinctive facial appearance in adults with a tall, square, prominent chin. Reassuringly, adults with Sotos syndrome are generally healthy with few new medical issues; however, lymphedema, poor dentition, hearing loss, contractures and tremor have developed in a small number of individuals.
DOI: 10.1002/ajmg.c.31738
Authors: Alison Foster, Anna Zachariou, Chey Loveday, Tazeen Ashraf, Edward Blair, Jill Clayton‐Smith, Huw Dorkins, Alan Fryer, Blanca Gener, David Goudie, Alex Henderson, Melita Irving, Shelagh Joss, Vaughan Keeley, Nayana Lahiri, Sally Ann Lynch, Sahar Mansour, Emma McCann, Jenny Morton, Nicole Motton, Alexandra Murray, Katie Riches, Deborah Shears, Zornitza Stark, Elizabeth Thompson, Julie Vogt, Michael Wright, Trevor Cole, Katrina Tatton‐Brown
Institutions: Birmingham Women’s and Children’s NHS Foundation Trust, University of Birmingham, Institute of Cancer Research, Guy's Hospital, St Thomas' Hospital, Guy's and St Thomas' NHS Foundation Trust, University of Oxford, Oxford University Hospitals NHS Trust, University of Manchester, St Mary's Hospital, Manchester University NHS Foundation Trust, Health Innovation Manchester, Leicester Royal Infirmary, University Hospitals of Leicester NHS Trust, Liverpool Women's Hospital, Liverpool Womens NHS Foundation Trust, BioCruces Health research Institute, Hospital de Cruces, Ninewells Hospital, Newcastle upon Tyne Hospitals NHS Foundation Trust, Queen Elizabeth University Hospital, University Hospitals of Derby and Burton NHS Foundation Trust, St George's Hospital, St George’s University Hospitals NHS Foundation Trust, Temple Street Children's University Hospital, St George's, University of London, Birmingham Women's Hospital, University Hospital of Wales, The University of Melbourne, Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Women's and Children's Hospital, The University of Adelaide
Language: English
Subfield: Genetics
Domain: Life Sciences
Open Access status: green
OpenAlex ID: W2971974850