Journal article

Comprehensive study of 28 individuals with SIN3A-related disorder underscoring the associated mild cognitive and distinctive facial phenotype

Meena Balasubramanian, Alexander JM Dingemans, Shadi Albaba, Ruth Richardson, Thabo M Yates, Helen Cox, Sofia Douzgou, Ruth Armstrong, Francis H Sansbury, Katherine B Burke, Andrew E Fry, Nicola Ragge, Saba Sharif, Alison Foster, Annachiara De Sandre-Giovannoli, Sahar Elouej, Pradeep Vasudevan, Sahar Mansour, Kate Wilson, Helen Stewart Show all

European Journal of Human Genetics | SPRINGERNATURE | Published : 2021

Abstract

Witteveen-Kolk syndrome (OMIM 613406) is a recently defined neurodevelopmental syndrome caused by heterozygous loss-of-function variants in SIN3A. We define the clinical and neurodevelopmental phenotypes related to SIN3A-haploinsufficiency in 28 unreported patients. Patients with SIN3A variants adversely affecting protein function have mild intellectual disability, growth and feeding difficulties. Involvement of a multidisciplinary team including a geneticist, paediatrician and neurologist should be considered in managing these patients. Patients described here were identified through a combination of clinical evaluation and gene matching strategies (GeneMatcher and Decipher). All patients c..

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Grants

Awarded by Netherlands Organization for Health Research and Development (ZonMw grant)


Awarded by Dutch Scientific Organization (NWO)


Funding Acknowledgements

We are grateful to the patients and their families for their cooperation. This study makes use of data generated by the DECIPHER Consortium. A full list of centres who contributed to the generation of the data is available from https://decipher.sanger.ac.uk/and via email from decipher@sanger.ac.uk.Funding for the project was provided by the Wellcome Trust and by grants from the Netherlands Organization for Health Research and Development (ZonMw grant 91718310 and the Dutch Scientific Organization (NWO, grant NWA 1160.18.320). WKC is supported by grants from SFARI and the JPB Foundation