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PTPN11 Mutation (ptpn11 + mutation)

Distribution by Scientific Domains

Medical Sciences	85%

Selected Abstracts

Hepatoblastoma in a Noonan syndrome patient with a PTPN11 mutation

PEDIATRIC BLOOD & CANCER, Issue 6 2008
Rie Yoshida MD
Abstract Although Noonan syndrome (NS) is occasionally associated with embryonal solid tumors, there has been no report of hepatoblastoma in NS. We identified hepatoblastoma spreading into bilateral hepatic lobes in a 1-month-old NS patient with a heterozygous PTPN11 mutation (Asn308Asp). This finding suggests the potential relevance of constitutively activated RAS/MAPK signaling in the development of hepatoblastoma. Pediatr Blood Cancer 2008;50:1274,1276. © 2008 Wiley-Liss, Inc. [source]

Malignant melanoma in a woman with LEOPARD syndrome: identification of a germline PTPN11 mutation and a somatic BRAF mutation

BRITISH JOURNAL OF DERMATOLOGY, Issue 6 2007
M. Seishima
No abstract is available for this article. [source]

A new PTPN11 mutation in juvenile myelomonocytic leukaemia associated with Noonan syndrome

ACTA PAEDIATRICA, Issue 5 2005
Lisa Giovannini
No abstract is available for this article. [source]

Genotype differences in cognitive functioning in Noonan syndrome

GENES, BRAIN AND BEHAVIOR, Issue 3 2009
E. I. Pierpont
Noonan syndrome (NS) is an autosomal-dominant genetic disorder associated with highly variable features, including heart disease, short stature, minor facial anomalies and learning disabilities. Recent gene discoveries have laid the groundwork for exploring whether variability in the NS phenotype is related to differences at the genetic level. In this study, we examine the influence of both genotype and nongenotypic factors on cognitive functioning. Data are presented from 65 individuals with NS (ages 4,18) who were evaluated using standardized measures of intellectual functioning. The cohort included 33 individuals with PTPN11 mutations, 6 individuals with SOS1 mutations, 1 individual with a BRAF mutation and 25 participants with negative, incomplete or no genetic testing. Results indicate that genotype differences may account for some of the variation in cognitive ability in NS. Whereas cognitive impairments were common among individuals with PTPN11 mutations and those with unknown mutations, all of the individuals with SOS1 mutations exhibited verbal and nonverbal cognitive skills in the average range or higher. Participants with N308D and N308S mutations in PTPN11 also showed no (or mild) cognitive delays. Additional influences such as hearing loss, motor dexterity and parental education levels accounted for significant variability in cognitive outcomes. Severity of cardiac disease was not related to cognitive functioning. Our results suggest that some NS-causing mutations have a more marked impact on cognitive skills than others. [source]

Granular Cell Tumor of the Scrotum in a Child with Noonan Syndrome

PEDIATRIC DERMATOLOGY, Issue 3 2008
M.R.C.P., M.R.C.P.C.H., Rachel U. Sidwell D.A.
Granular cell tumors most often arise on the tongue, but can occur at any body site, and therefore initial presentation to dermatologists is common. We report a granular cell tumor of the scrotum in a child with Noonan syndrome, known to have a mutation in the PTPN11 gene. No previous reports of granular cell tumor of the scrotum in a child are found. The tumor is usually benign; however, it can have a high local recurrence rate (variable between 2% and 50% dependent on whether initial excision is complete and on the occurrence of an infiltrative growth pattern) and therefore long-term follow-up is necessary. This case highlights the occurrence of granular cell tumor, a diagnosis not to be missed by the dermatologist. In addition, we postulate the possible role of PTPN11 mutations in the development of granular cell tumor. [source]

Analysis of the PTPN11 gene in idiopathic short stature children and Noonan syndrome patients

CLINICAL ENDOCRINOLOGY, Issue 3 2008
Lize V. Ferreira
Summary Background, Mutations in the PTPN11 gene are the main cause of Noonan syndrome (NS). The presence of some NS features is a frequent finding in children with idiopathic short stature (ISS). These children can represent the milder end of the NS clinical spectrum and PTPN11 is a good candidate for involvement in the pathogenesis of ISS. Objective, To evaluate the presence of mutations in PTPN11 in ISS children who presented NS-related signs and in well-characterized NS patients. Patients and methods, We studied 50 ISS children who presented at least two NS-associated signs but did not fulfil the criteria for NS diagnosis. Forty-nine NS patients diagnosed by the criteria of van der Burgt et al.3 were used to assess the adequacy of these criteria to select patients for PTPN11 mutation screening. The coding region of PTPN11 was amplified by polymerase chain reaction (PCR), followed by direct sequencing. Results, No mutations or polymorphisms were found in the coding region of the PTPN11 gene in ISS children. Nineteen of the 49 NS patients (39%) presented mutations in PTPN11. No single characteristic enabled us to distinguish between NS patients with or without PTPN11 mutations. Conclusion, Considering that no mutations were found in the present cohort with NS-related signs, it is unlikely that mutations would be found in unselected ISS children. The van der Burgt et al. criteria are adequate in attaining NS diagnosis and selecting patients for molecular studies. Mutations in the PTPN11 gene are commonly involved in the pathogenesis of NS but are not a common cause of ISS. [source]