TY - JOUR
T1 - 12q14.3 microdeletion involving HMGA2 gene cause a Silver-Russell syndrome-like phenotype: A case report and review of the literature
AU - Piccione, Maria
AU - Salzano, Emanuela
AU - Fragapane, Tiziana
AU - Busè, Martina
AU - Palazzo, Daniela
AU - Mercadante, Francesca
AU - Malacarne, Michela
AU - Piccione, Maria
AU - Palazzo, Daniela
AU - Salzano, Emanuela
PY - 2020
Y1 - 2020
N2 - Background: Silver-Russell Syndrome (SRS) is a genetic disorder characterized by intrauterine and postnatal growth restriction and normal head circumference with consequent relative macrocephaly. Addictional findings are protruding forehead in early life, body asymmetry (of upper and lower limbs) and substantial feeding difficulties. Although several genetic mechanisms that cause the syndrome are known, more than 40% of patients with a SRS-like phenotype remain without an etiological diagnosis. In the last few years, different clinical reports have suggested that mutations or deletions of the HMGA2 gene can be responsible for a SRS-like phenotype in patients with negative results of the common diagnostic tests for this syndrome. Case presentation: We present a 3-year-old male patient with clinical diagnosis of Silver-Russell Syndrome (SRS) associated with a de novo heterozygous deletion of the long arm of the chromosome 12 (12q14.3) encompassing the HMGA2 gene. Conclusions: Our report confirms the etiological role of HMGA2 as a disease gene in the development of a SRS-like phenotype.
AB - Background: Silver-Russell Syndrome (SRS) is a genetic disorder characterized by intrauterine and postnatal growth restriction and normal head circumference with consequent relative macrocephaly. Addictional findings are protruding forehead in early life, body asymmetry (of upper and lower limbs) and substantial feeding difficulties. Although several genetic mechanisms that cause the syndrome are known, more than 40% of patients with a SRS-like phenotype remain without an etiological diagnosis. In the last few years, different clinical reports have suggested that mutations or deletions of the HMGA2 gene can be responsible for a SRS-like phenotype in patients with negative results of the common diagnostic tests for this syndrome. Case presentation: We present a 3-year-old male patient with clinical diagnosis of Silver-Russell Syndrome (SRS) associated with a de novo heterozygous deletion of the long arm of the chromosome 12 (12q14.3) encompassing the HMGA2 gene. Conclusions: Our report confirms the etiological role of HMGA2 as a disease gene in the development of a SRS-like phenotype.
UR - http://hdl.handle.net/10447/472456
M3 - Article
VL - 46
JO - THE ITALIAN JOURNAL OF PEDIATRICS
JF - THE ITALIAN JOURNAL OF PEDIATRICS
SN - 1720-8424
ER -