IMPE2023 Poster Presentations Growth and Syndromes (15 abstracts)
Familial Silver-Russell like Syndrome with postnatal microcephaly caused by a partial HMGA2 gene deletion
Ana Keselman 1 , Nora Sanguineti 1 , Paula Scaglia 1 , Bárbara Casali 1 , Débora Braslavsky 1 , María Esnaola Azcoiti 1 , María Gabriela Ballerini 1 , Florencia Villegas 2 , Lourdes Correa 1 , Agustín Izquierdo 1 , Patricia Pennisi 1 , Graciela Del Rey 1 , Héctor Jasper 1 , Claudia Arberas 2 , María Gabriela Ropelato 1 , Rodolfo Rey 1 & Ignacio Bergadá
1Centro de Investigaciones Endocrinológicas "Dr. César Bergadá" (CEDIE) CONICET – FEI – División de Endocrinología, Hospital de Niños Ricardo Gutiérrez, Buenos Aires, Argentina. 2Servicio de Genética, Hospital de Niños Ricardo Gutiérrez, Buenos Aires, Argentina
Introduction: Silver-Russell Syndrome (SRS) is a genetic disorder characterized by intrauterine and postnatal growth restriction, relative macrocephaly and protruding forehead in early life, body asymmetry and feeding difficulties. Although several genetic mechanisms that cause the syndrome are known, more than 40% of patients with an SRS-like phenotype remains without an etiological diagnosis. In the last few years, clinical reports have suggested that single nucleotide variants or deletions of the HMGA2 gene can be responsible for SRS-like phenotype in patients with negative results of the common diagnostic tests for this syndrome.
Aim: To report a familial case of SRS-like phenotype with a partial HMGA2deletion.
Case report: A 1.2-year-old girl was referred due to short stature (height, -3.07 SD). She was born from non-consanguineous parents at 38 weeks of gestational age, BW: 2.630 gr (-1.36 SD), BL: 45 cm (-2.2 SD) and head circumference (HC): 33 cm (0 SD). Her mother and maternal grandfather presented short stature (height -3.25 and -3.13 SD, respectively) and were born SGA, while her father had normal stature (-0.7 SD). At 3 years old, height was 83.4 cm (-3.05 SD), weight: 8.95 Kg (-2.96 SD) and HC: 45 (-2.23 SD), body mass index (BMI): 12.9 (-3.13 SD). Physical examination showed triangular facies, prominent forehead, retromicrognathia, clinodactyly, joint hypermobility and normal neurodevelopment. Last visit at 7.1 years, height: -2.26 SD, weight: -2.99 SD, HC: -3.6 SD and BMI: -2.68 SD. She presented normal growth hormone levels (maximum stimulated peak 15.8 ng/ml) and elevated IGF1 and IGFBP3 levels (2.3 and 3.4 SD, respectively). Karyotype was normal. Applying the Netchine-Harbison Clinical Scoring System, the patient scored 5 out of 6 criteria (the proband met all the criteria for likely SRS except for body asymmetry).
Results: MS-MLPA at the imprinting regions 11p15, 7p12, 7q32.2 and 14q32, and array-CGH (180K) performed in the patient were normal. A heterozygous pathogenic 13 Kb-deletion was identified at 12q14.3 by WES, encompassing at least 3 exons of HMGA2 gene. Deletion at this genomic region is associated with autosomal dominant Silver-Russell syndrome 5 (OMIM:618908). MLPA confirmed the partial HMGA2 deletion in the patient, her brother and her mother.
Conclusion: We report a deletion affecting HMGA2 in association with an SRS-like phenotype with postnatal microcephaly. HMGA2 arises as a gene to be considered in patients with evocative phenotype for SRS and negative genetic results in the usually investigated genes, especially in familial cases with no body asymmetry.
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