Supplemental Data: Silver-Russell syndrome secondary to rare (epi)genotypes display diverse phenotypes and frequently do not fulfil clinical diagnostic criteria
Published: 23 January 2025| Version 1 | DOI: 10.17632/9mbfj2bg2y.1
Contributors:
, , , , , Description
We aimed to evaluate the suitability of SRS as an umbrella term for these (epi)genotypes by identifying key clinical features and assessing the validity of NH-CSS. An extensive literature search identified 17 CDKN1C, 21 IGF2, 17 HMGA2 and 10 PLAG1 monogenic defects. Clinical phenotypes including the NH-CSS criteria were interrogated to assess (dis)similarity between the molecular subgroups of SRS, including grouped imprinted (common and monogenic) and non imprinted monogenic molecular causes. The NH-CSS poorly identified monogenic SRS. The diverse clinical features of PLAG1, CDKN1C, HMGA2 and IGF2 defects hinders the clinical diagnosis, and these rarer (epi)genotypes could be considered as distinct entities.
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Institutions
Queen Mary University of London, University of Southampton, William Harvey Research Institute, University Hospital Southampton NHS Foundation Trust
Categories
Genetics, Endocrinology, Pediatrics, Diagnosis