Search results for "Silver–Russell syndrome"
showing 3 items of 3 documents
12q14.3 microdeletion involving HMGA2 gene cause a Silver-Russell syndrome-like phenotype: a case report and review of the literature
2020
Abstract 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…
Silver-Russell syndrome associated to Mayer-Rokitansky-Kuster-Hauser syndrome, diabetes and hirsutism
2001
We report an unusual association of two rare conditions, the Silver-Russell syndrome and the Mayer-Rokitansky-Küster-Hauser syndrome, with extra endocrine anomalies. A 15-year old Silver-Russell syndrome girl was referred to our Unit because of primary amenorrhea and hirsutism of adrenal origin. A thorough assessment confirmed previous diagnoses and revealed the presence of diabetes, hyperinsulinism and a complete Mayer-Rokitansky-Küster-Hauser syndrome with an ectopic localization of both ovaries. Although initial medical treatment was not unsatisfactory, future medical, psychological and social implications are expected.
Germline correction of an epimutation related to Silver-Russell syndrome.
2015
Like genetic mutations, DNA methylation anomalies or epimutations can disrupt gene expression and lead to human diseases. However, unlike genetic mutations, epimutations can in theory be reverted through developmental epigenetic reprograming, which should limit their transmission across generations. Following the request for a parental project of a patient diagnosed with Silver-Russell syndrome (SRS), and the availability of both somatic and spermatozoa DNA from the proband and his father, we had the exceptional opportunity to evaluate the question of inheritance of an epimutation. We provide here for the first time evidence for efficient reversion of a constitutive epimutation in the sperm…