Endocrine Abstracts

Introduction: 3-M syndrome is an autosomal recessive disorder characterised by pre- and postnatal growth restriction, characteristic facial dysmorphism, normal intelligence and radiological features (slender long bones and tall vertebral bodies). It is known to be caused by mutations in the genes encoding Cullin 7 (a component of the ubiquitination system) and Obscurin like-1 (a cytoskeletal protein). The mechanisms through which mutations in these genes impair growth are uncl...

Glucocorticoids (GCs) are the most potent anti-inflammatory agents known and are used extensively in the treatment of inflammatory disease, however an individuals response to therapy varies greatly. Resistance to GC is often attributed to mutations within the glucocorticoid receptor (GR) through which GC elicit their effects. Here, we present a kindred with GR haploinsufficiency yet no clinical phenotype. PCR and GR sequence profiling of genomic DNA isolated from patient blood...

3-M syndrome is an autosomal recessive disorder characterised by severe pre- and post-natal growth failure, a characteristic facial appearance (triangular shaped face, fleshy tipped nose) and radiological features (slender long bones and tall vertebrae). 3-M syndrome is known to be caused by mutations throughout the Cullin 7 gene, identified in a range of ethnic groups including Brazilian, European, Moroccan, Yakutskian and Indian.We have now identified ...

3M syndrome is characterised by severe intra-uterine and post-natal growth failure. Patients have a characteristic triangular facial appearance and disproportionate short stature with tall vertebral bodies and over-tubulation of long bones. The condition bears some resemblance to the Russell Silver syndrome, but is transmitted as an autosomal recessive trait. It has been proposed that heterozygous carriers demonstrate mild phenotypic manifestations of the condition.<p clas...

3-M syndrome is an autosomal recessive primordial growth disorder characterized by pre- and post-natal growth restriction, facial dysmorphism and radiological abnormalities. Mutations in the gene CUL7 have been previously shown to cause 3-M syndrome. CUL7 is a member of the cullin family of E3 ubiquitin ligases involved in targeted protein degradation.We identified a large cohort of 3-M syndrome patients who did not carry CUL7 mutations but...