• LEOPARD
  • In addition, the affected father in our family presented with a hearing deficit since birth, which together with lentigines are two characteristics of NS with multiple lentigines (previously LEOPARD syndrome), supporting the difficulties in diagnosing individuals with RASopathies correctly. (diva-portal.org)
  • Mutations in this gene are associated with Noonan syndrome 5 and LEOPARD syndrome 2. (origene.com)
  • An alternative name of the condition, LEOPARD syndrome, is a mnemonic, originally coined in 1969, as the condition is characterized by some of the following seven conditions, the first letters of which spell LEOPARD, along with the characteristic "freckling" of the skin, caused by the lentigines that is reminiscent of the large cat. (wikipedia.org)
  • protein
  • The mutation inserts the nucleotide cytosine into an area of the gene called exon 21 (written 3248_3249insC) and disrupts the gene's instructions, resulting in a shortened protein. (nih.gov)
  • Mutations in the Ras/mitogen activated protein kinase signaling pathways are known to be responsible for ~70% of NS cases. (wikipedia.org)
  • In the case of Noonan syndrome, mutations are broadly distributed throughout the coding region of the gene but all appear to result in hyper-activated, or unregulated mutant forms of the protein. (wikipedia.org)
  • The effects of SH3BP2 mutations are still under study, but researchers believe that the abnormal protein disrupts critical signaling pathways in cells associated with the maintenance of bone tissue and in some immune system cells. (wikipedia.org)
  • patients
  • Patients with this syndrome present with characteristic facial, musculoskeletal, cardiac and endocrine abnormalities. (bireme.br)
  • Targeted/exome sequencing identified mutations in ten Chinese patients diagnosed with Noonan syndrome and related disorders. (bireme.br)
  • METHODS: TS/WES was performed to identify mutations in ten Chinese patients who exhibited the following manifestations: potential facial dysmorphisms, short stature, congenital heart defects, and developmental delay. (bireme.br)
  • However, two patients who carried the same mutation in the RAF1 gene presented different clinical features. (bireme.br)
  • There have been few reports of patients with Noonan syndrome who have subsequently suffered from Malignant Hyperthermia (MH). (wikipedia.org)
  • Despite the various possible developmental/learning issues that can be seen in NS, there are Noonan Syndrome patients that have advanced degrees, including at least two that have become attorneys. (wikipedia.org)
  • Additional dermatologic abnormalities (axillary freckling, localized hypopigmentation, interdigital webbing, hyperelastic skin) Mild mental retardation is observed in about 30% of those affected with the syndrome Nystagmus (involuntary eye movements), seizures, or hyposmia (reduced ability to smell) has been documented in a few patients In 2004, a patient was reported with recurrent upper extremity aneurysms that required surgical repairs. (wikipedia.org)
  • In a study of 10 infants with clinical indications of NSML prior to their first birthday, 8 (80%) patients were confirmed to have the suspected mutation. (wikipedia.org)
  • residues
  • First, only few or even a single mutation can result in the generation of a functional motif, with further mutations of flanking residues allowing tuning affinity and specificity. (wikipedia.org)
  • nucleotide
  • This mutation is an addition of a single building block of DNA (nucleotide). (nih.gov)
  • A single amino acid substitution, and in particular a single nucleotide substitution, is responsible for an activating mutation. (wikipedia.org)
  • defects
  • Our studies indicate that the cardiac defects associated with the introduction of the Noonan-associated SHP-2 mutations are coupled with a delay or arrest of the cardiac cell cycle in M-phase and a failure of cardiomyocyte progenitors to incorporate into the developing heart. (biologists.org)
  • Noonan syndrome is characterized by mildly unusual facial characteristics, short stature, heart defects, bleeding problems, skeletal malformations, and many other signs and symptoms. (nih.gov)
  • Prevalence
  • Background: Prevalence and characteristics of fetal alcohol syndrome (FAS) and total fetal alcohol spectrum disorders (FASD) were studied in a second sample of three South African rural communities to assess change. (stanford.edu)
  • catalytic core
  • Most of these mutations disrupt the binding interface between the N-SH2 domain and catalytic core necessary for the enzyme to maintain its auto-inhibited conformation. (wikipedia.org)
  • result
  • Lack of postpubertal breast development is a common manifestation of this syndrome and may result in severe hypomastia and a masculine appearance of the female chest. (bireme.br)