ESPE Abstracts

Introduction: McCune-Albright syndrome (MAS) is caused by somatic mosaic mutations in the GNAS gene. Detection of the GNAS mutations is usually difficult because of the low frequency mosaicism. Droplet digital polymerase chain reaction (ddPCR) is a new technology that enables to measure absolute quantities of target nucleic acids in a sample by counting nucleic acid molecules encapsulated in discrete water-in-oil droplet partitions.<p cla...

Background: Noonan syndrome (NS) is an autosomal dominant disorder characterized by a short stature, congenital heart defects, and characteristic facial features. Gain-of-function mutations of multiple genes in the Ras/mitogen activated protein kinase pathway have been identified in 70–80% of patients with NS. Recently, leucine-zipper-like transcription regulator 1 (LZTR1), which has not previously been associated with the pathway, was reported as a new causative...

Introduction: Denosumab is an inhibitor of receptor activator of nuclear factor kappa-B ligand that strongly suppresses differentiation and function of osteoclasts. Cherubism is a rare autosomal dominant disorder characterized by symmetrical swelling of the mandible and the maxilla. In patients with cherubism, the bone is replaced by a fibrous granuloma containing multinucleated giant cells, which are differentiated into activated osteoclasts<p class="abst...

Background: Interstitial deletions of the short arm of chromosome 11 are rare chromosomal anomalies, and are considered to be associated with several clinical conditions including WAGR syndrome.Objective: To report the clinical and molecular findings in the first case of a heterozygous 11p14.1-p15.3 deletion.Patient: A Japanese female patient was born at 39 weeks of gestation after an uncomplicated pregnancy and delivery. At birth,...