ESPE Yearbook of Paediatric Endocrinology

Brief Summary: Two Japanese children with Silver Russell Syndrome (SRS) are reported, one with a de novo pathogenic frameshift sequence variant (Case 1) and the other with a 3.4 MB de novo microdeletion (Case 2) in HMGA2 (High Mobility Group AT-hook 2; OMIM *600,698). Both genetic findings meet the criteria established by the ACMG/AMP1. Case 1 had 5 of 6 (no body asymmetry) and Case 2 had 4 of 6 (no prominent forehead or body asymmetry) of...

Brief summary: This observational study aimed at clarifying the contribution of pathogenic copy number variants (PCNVs) and candidate pathogenic variants in 86 children born small-for-gestational-age with short stature (SGA-SS).Approximately 10% of children born SGA do not show catch-up and remain permanently short (SGA-SS) (1,2). There is increasing evidence suggesting that genetic abnormalities underlie a high proportion of SGA-SS children. In this stu...

To read the full abstract: J Clin Endocrinol Metab. 2020 Jan 1;105(1):dgz034.Using different genetic approaches, the authors identified 5 novel pathogenic or likely pathogenic IGF2 gene variants in Japanese patients who underwent genetic testing for the variable associations of multiple congenital anomalies such as mental retardation, Silver-Russell syndrome (SRS), disorders of sex development (DSD), ectrodactyly (split hand/foot malfor...