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https://www.readbyqxmd.com/read/29214238/redox-regulation-of-a-gain-of-function-mutation-n308d-in-shp2-noonan-syndrome
#1
Luciana E S F Machado, David A Critton, Rebecca Page, Wolfgang Peti
SHP2 (Src homology 2 domain-containing protein tyrosine phosphatase 2; PTPN11) is a ubiquitous multidomain, nonreceptor protein tyrosine phosphatase (PTP) that plays an important role in diseases such as cancer, diabetes, and Noonan syndrome (NS). NS is one of the most common genetic disorders associated with congenital heart disease, and approximately half of the patients with Noonan syndrome have gain-of-function mutations in SHP2. One of the most common NS mutations is N308D. The activity of SHP2, like that of most PTPs, is reversibly inactivated by reactive oxygen species (ROS)...
November 30, 2017: ACS Omega
https://www.readbyqxmd.com/read/29211371/-primary-lymphedema
#2
Michèle Depairon, Claudia Lessert, Didier Tomson, Lucia Mazzolai
Characterized by an aplasia, hypoplasia or dysplasia of the lymphatic network, the primary lymphedema takes part of rare diseases. If 10 % of cases are congenital, the majority of them are detected before 35 years, most of the time due to an intercurrent event suh as a sprain or an infection. Although rarer, some primaries lymphedemas are family forms such the syndromes of Milroy and Meige. The primary lymphedema can also be a part of more complex malformative diseases such as Klinefelter, Turner or Noonan syndromes...
December 6, 2017: Revue Médicale Suisse
https://www.readbyqxmd.com/read/29197556/mir-195-inhibited-abnormal-activation-of-osteoblast-differentiation-in-mc3t3-e1-cells-via-targeting-raf-1
#3
Chen Chao, Feng Li, Zhiping Tan, Weizhi Zhang, Yifeng Yang, Cheng Luo
BACKGROUND: Recent reports have demonstrated that RAF-1L613V (a mutant of RAF-1) mutant mice show bone deformities similar to Noonan syndrome. It has been suggested that RAF-1L613V might abnormally activate osteoblast differentiation of MC3T3-E1 cells. METHODS: To demonstrate that RAF-1 is associated with bone deformity and that RAF-1L613V dependent bone deformity could be inhibited by microRNA-195 (miR-195), we first investigated the amplifying influence of wild-type RAF-1 (WT) or RAF-1L613V (L613V) on the viability and differentiation of MC3T3-E1 cells induced by bone morphogenetic protein-2 (BMP-2) via 3-(4, 5-dimethylthiazol-2-yl)-2,5-diphenyltetrazolium bromide (MTT) assay, alkaline phosphatase (ALP) and Alizarin Red S (ARS) staining, quantitative real-time polymerase chain reaction (qRT-PCR) and western blot analysis...
November 29, 2017: Experimental Cell Research
https://www.readbyqxmd.com/read/29196357/an-approach-to-familial-lymphoedema
#4
Gabriela E Jones, Sahar Mansour
Lymphoedema is the build-up of lymphatic fluid leading to swelling in the tissues. Most commonly it affects the peripheries. Diagnosis is based on clinical assessment and imaging with lymphoscintigraphy. Treatment is supportive with compression garments, massage, good skin hygiene and prompt use of antibiotics to avoid the complication of cellulitis. Most commonly, lymphoedema occurs as a result of damage to the lymphatic system following surgery, trauma, radiation or infection. However, it can be primary, often associated with a genetic defect that causes disruption to the development of the lymphatic system...
December 2017: Clinical Medicine: Journal of the Royal College of Physicians of London
https://www.readbyqxmd.com/read/29193904/somatic-mosaicism-of-an-intragenic-fancb-duplication-in-both-fibroblast-and-peripheral-blood-cells-observed-in-a-fanconi-anemia-patient-leads-to-milder-phenotype
#5
Rajalakshmi S Asur, Danielle C Kimble, Francis P Lach, Moonjung Jung, Frank X Donovan, Aparna Kamat, Raymond J Noonan, James W Thomas, Morgan Park, Peter Chines, Adrianna Vlachos, Arleen D Auerbach, Agata Smogorzewska, Settara C Chandrasekharappa
BACKGROUND: Fanconi anemia (FA) is a rare disorder characterized by congenital malformations, progressive bone marrow failure, and predisposition to cancer. Patients harboring X-linked FANCB pathogenic variants usually present with severe congenital malformations resembling VACTERL syndrome with hydrocephalus. METHODS: We employed the diepoxybutane (DEB) test for FA diagnosis, arrayCGH for detection of duplication, targeted capture and next-gen sequencing for defining the duplication breakpoint, PacBio sequencing of full-length FANCB aberrant transcript, FANCD2 ubiquitination and foci formation assays for the evaluation of FANCB protein function by viral transduction of FANCB-null cells with lentiviral FANCB WT and mutant expression constructs, and droplet digital PCR for quantitation of the duplication in the genomic DNA and cDNA...
November 30, 2017: Molecular Genetics & Genomic Medicine
https://www.readbyqxmd.com/read/29189514/somatic-ptpn11-mutation-in-a-child-with-neuroblastoma-and-protein-losing-enteropathy
#6
Patience Obasaju, Jennifer Brondon, Sabina Mir, Lynn A Fordham, Sang Lee, Julie Blatt
Neuroblastoma and protein losing enteropathy (PLE) are diagnoses commonly seen by oncologists and gastroenterologists, respectively. The concurrence of these 2 entities is rare, and not well explained. We describe the sixth case of PLE in a child with neuroblastoma, and the first for which genetic information is available. Tumor DNA had a mutation in the PTPN11 gene, which has been described in neuroblastoma, and in Noonan syndrome-a diagnosis in which neuroblastoma and PLE independently have been reported...
November 17, 2017: Journal of Pediatric Hematology/oncology
https://www.readbyqxmd.com/read/29165300/foxi2-a-possible-gene-contributing-to-ectodermal-dysplasia
#7
Mazen Kurban, Savo Bou Zeineddine, Lamiaa Hamie, Remi Safi, Ossama Abbas, Abdul Ghani Kibbi, Fadi Bitar, Georges Nemer
Cardio-facio-cutaneous syndrome (CFC), Noonan syndrome (NS), and Costello syndrome are a group of diseases that belong to the RASopathies. The syndromes share clinical features making diagnosis a challenge. To investigate the phenotype and genotype of a 10-year-old Iraqi girl with overlapping features of CFC, NS, and Costello syndromes, with additional features of ectodermal dysplasia. DNA was examined by exome sequencing and protein expression by immunohistochemistry. Exome sequencing identified a mutation in the SOS1 gene and a de novo deletion in the FOXI2 gene which was neither present in the international databases, nor in 400 chromosomes from the same population...
November 22, 2017: European Journal of Dermatology: EJD
https://www.readbyqxmd.com/read/29125030/exploring-the-effect-of-d61g-mutation-on-shp2-cause-gain-of-function-activity-by-a-molecular-dynamics-study
#8
Hong-Lian Li, Ying Ma, Chang-Jie Zheng, Wen-Yan Jin, Wen-Shan Liu, Run-Ling Wang
Noonan syndrome (NS) is a common autosomal dominant congenital disorder which could cause the congenital cardiopathy and cancer predisposition. Previous studies reported that the knock-in mouse models of the mutant D61G of SHP2 exhibited the major features of NS, which demonstrated that the mutation D61G of SHP2 could cause NS. To explore the effect of D61G mutation on SHP2 and explain the high activity of the mutant, molecular dynamic (MD) simulations were performed on wild type (WT) of SHP2 and the mutated SHP2-D61G, respectively...
November 10, 2017: Journal of Biomolecular Structure & Dynamics
https://www.readbyqxmd.com/read/29120925/noonan-syndrome-an-update-on-growth-and-development
#9
Armelle Yart, Thomas Edouard
PURPOSE OF REVIEW: To provide an update on recent developments on Noonan syndrome with a special focus on endocrinology, bone, and metabolism aspects. The key issues still to be resolved and the future therapeutic perspectives will be discussed. RECENT FINDINGS: The discovery of the molecular genetic causes of Noonan syndrome and Noonan-syndrome-related disorders has permitted us to better understand the mechanisms underlying the different symptoms of these diseases and to establish genotype-phenotype correlations (in growth patterns for example)...
November 7, 2017: Current Opinion in Endocrinology, Diabetes, and Obesity
https://www.readbyqxmd.com/read/29109363/efficacy-and-safety-of-two-doses-of-norditropin%C3%A2-somatropin-in-short-stature-due-to-noonan-syndrome-a-2-year-randomized-double-blind-multicenter-trial-in-japanese-patients
#10
Keiichi Ozono, Tsutomu Ogata, Reiko Horikawa, Yoichi Matsubara, Yoshihisa Ogawa, Keiji Nishijima, Susumu Yokoya
This randomized double-blind multicenter trial (NCT01927861) evaluated the growth-promoting effect and safety of Norditropin(®) (NN220; somatropin) in Japanese children with short stature due to Noonan syndrome. Prepubertal children aged 3-<11 years (boys) or 3-<10 years (girls) with Noonan syndrome were randomized to receive GH 0.033 mg/kg/day (n = 25, mean age 6.57 years, 11 females) or 0.066 mg/kg/day (n = 26, mean age 6.06 years, eight females) for 104 weeks. Change in height standard deviation score (HSDS) from baseline was analyzed based on an ANCOVA model...
November 7, 2017: Endocrine Journal
https://www.readbyqxmd.com/read/29092974/breast-reconstruction-in-a-patient-with-noonan-syndrome
#11
Basel Sharaf, Mohamed Diya Sabbagh, Si-Gyun Roh
Noonan syndrome (NS) is a relatively common genetic disorder with an autosomal dominant inheritance pattern affecting 1 in 1000-2500 births. Patients with this syndrome present with characteristic facial, musculoskeletal, cardiac and endocrine abnormalities. 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. We report the first case of breast reconstruction in a 24-year-old woman with NS who lacked postpubertal breast development...
November 1, 2017: BMJ Case Reports
https://www.readbyqxmd.com/read/29074966/mutation-specific-mechanisms-of-hyperactivation-of-noonan-syndrome-sos-molecules-detected-with-single-molecule-imaging-in-living-cells
#12
Yuki Nakamura, Nobuhisa Umeki, Mitsuhiro Abe, Yasushi Sako
Noonan syndrome (NS) is a congenital hereditary disorder associated with developmental and cardiac defects. Some patients with NS carry mutations in SOS, a guanine nucleotide exchange factor (GEF) for the small GTPase RAS. NS mutations have been identified not only in the GEF domain, but also in various domains of SOS, suggesting that multiple mechanisms disrupt SOS function. In this study, we examined three NS mutations in different domains of SOS to clarify the abnormality in its translocation to the plasma membrane, where SOS activates RAS...
October 26, 2017: Scientific Reports
https://www.readbyqxmd.com/read/29057136/prenatal-and-postnatal-sonographic-confirmation-of-congenital-absence-of-the-ductus-venosus-in-a-child-with-noonan-syndrome
#13
Christopher L Newman, Matthew R Wanner, Brandon P Brown
The ductus venosus serves as an important vascular pathway for intrauterine circulation. This case presents a description of an absent ductus venosus in a female patient with Noonan syndrome, including both prenatal and postnatal imaging of the anomaly. In the setting of the anomalous vascular connection, the umbilical vein courses inferiorly to the iliac vein in parallel configuration with the umbilical artery. This finding was suspected based on prenatal imaging and the case was brought to attention when placement of an umbilical catheter was thought to be malpositioned given its appearance on radiography...
2017: Case Reports in Radiology
https://www.readbyqxmd.com/read/29050118/-gene-mutation-and-clinical-phenotype-analysis-of-patients-with-noonan-syndrome-and-hypertrophic-cardiomyopathy
#14
X H Liu, W W Ding, L Han, X R Liu, Y Y Xiao, J Yang, Y Mo
Objective: To analyze the gene mutations and clinical features of patients with Noonan syndrome and hypertrophic cardiomyopathy. Method: Determined the mutation domain in five cases diagnosed with Noonan syndrome and hypertrophic cardiomyopathy and identified the relationship between the mutant domain and hypertrophic cardiomyopathy by searching relevant articles in pubmed database. Result: Three mutant genes (PTPN11 gene in chromosome 12, RIT1 gene in chromosome 1 and RAF1 gene in chromosome 3) in five cases all had been reported to be related to hypertrophic cardiomyopathy...
October 2, 2017: Zhonghua Er Ke za Zhi. Chinese Journal of Pediatrics
https://www.readbyqxmd.com/read/29037749/psychopathological-features-in-noonan-syndrome
#15
Francesca Perrino, Serena Licchelli, Giulia Serra, Giorgia Piccini, Cristina Caciolo, Patrizio Pasqualetti, Flavia Cirillo, Chiara Leoni, Maria Cristina Digilio, Giuseppe Zampino, Marco Tartaglia, Paolo Alfieri, Stefano Vicari
INTRODUCTION: Noonan syndrome (NS) is an autosomal dominant disorder characterized by short stature, skeletal and haematological/lymphatic defects, distinctive facies, cryptorchidism, and a wide spectrum of congenital heart defects. Recurrent features also include variable cognitive deficits and behavioural problems. Recent research has been focused on the assessment of prevalence, age of onset and characterization of psychiatric features in this disorder. Herein, we evaluated the prevalence of attention deficit and hyperactivity disorder (ADHD), anxiety and depressive symptoms and syndromes in a cohort of individuals with clinical and molecular diagnosis of NS...
September 28, 2017: European Journal of Paediatric Neurology: EJPN
https://www.readbyqxmd.com/read/29025208/an-atypical-case-of-noonan-syndrome-with-kras-mutation-diagnosed-by-targeted-exome-sequencing
#16
Jinsup Kim, Sung Yoon Cho, Aram Yang, Ja-Hyun Jang, Youngbin Choi, Ji-Eun Lee, Dong-Kyu Jin
Noonan syndrome (NS) is a genetic disorder caused by autosomal dominant inheritance and is characterized by a distinctive facial appearance, short stature, chest deformity, and congenital heart disease. In individuals with NS, germline mutations have been identified in several genes involved in the RAS/mitogen-activated protein kinase signal transduction pathway. Because of its clinical and genetic heterogeneity, the conventional diagnostic protocol with Sanger sequencing requires a multistep approach. Therefore, molecular genetic diagnosis using targeted exome sequencing (TES) is considered a less expensive and faster method, particularly for patients who do not fulfill the clinical diagnostic criteria of NS...
September 2017: Annals of Pediatric Endocrinology & Metabolism
https://www.readbyqxmd.com/read/28971455/neurofibromatosis-noonan-syndrome-a-possible-paradigm-of-the-combination-of-genetic-and-epigenetic-factors
#17
Christos Yapijakis, Nikos Pachis, Costas Voumvourakis
Neurofibromatosis-Noonan syndrome (NFNS) is a clinical entity possessing traits of autosomal dominant disorders neurofibromatosis type 1 (NF1) and Noonan syndrome (NS). Germline mutations that disrupt the RAS/MAPK pathway are involved in the pathogenesis of both NS and NF1. In light of a studied Greek family, a new theory for etiological pathogenesis of NFNS is suggested. The NFNS phenotype may be the final result of a combination of a genetic factor (a mutation in the NF1 gene) and an environmental factor with the epigenetic effects of muscle hypotonia (such as hydantoin in the reported Greek family), causing hypoplasia of the face and micrognathia...
2017: Advances in Experimental Medicine and Biology
https://www.readbyqxmd.com/read/28957739/novel-mutations-and-their-genotype-phenotype-correlations-in-patients-with-noonan-syndrome-using-next-generation-sequencing
#18
Alireza Tafazoli, Peyman Eshraghi, Francesca Pantaleoni, Rahim Vakili, Morteza Moghaddassian, Martha Ghahraman, Valentina Muto, Stefano Paolacci, Fatemeh Fardi Golyan, Mohammad Reza Abbaszadegan
PURPOSE: Noonan Syndrome (NS) is an autosomal dominant disorder with many variable and heterogeneous conditions. The genetic basis for 20-30% of cases is still unknown. This study evaluates Iranian Noonan patients both clinically and genetically for the first time. MATERIALS/METHODS: Mutational analysis of PTPN11 gene was performed in 15 Iranian patients, using PCR and Sanger sequencing at phase one. Then, as phase two, Next Generation Sequencing (NGS) in the form of targeted resequencing was utilized for analysis of exons from other related genes...
September 26, 2017: Advances in Medical Sciences
https://www.readbyqxmd.com/read/28928975/a-unique-association-of-noonan-syndrome-and-47-xyy-syndrome-in-a-male-presenting-with-failure-to-thrive
#19
Edward J Bellfield, Zohra Shad
We describe a 24-month-old male patient who presented to our Genetics-Endocrinology Clinic with a history of failure to thrive, short stature and cryptorchidism. Soon after birth he was diagnosed with 47,XYY syndrome, but due unusual facial features had further diagnostic workup which revealed Noonan syndrome (NS) as well. This report illustrates significant phenotypic-cytogenetic variability within the clinical presentation of NS and 47,XYY syndrome, as well as the need to investigate patients for other genetic defects when phenotype does not correlate with genotype...
September 2017: Oxford Medical Case Reports
https://www.readbyqxmd.com/read/28921562/a-novel-approach-using-long-read-sequencing-and-ddpcr-to-investigate-gonadal-mosaicism-and-estimate-recurrence-risk-in-two-families-with-developmental-disorders
#20
Maria Wilbe, Sanna Gudmundsson, Josefin Johansson, Adam Ameur, Eva-Lena Stattin, Göran Annerén, Helena Malmgren, Carina Frykholm, Marie-Louise Bondeson
OBJECTIVE: De novo mutations contribute significantly to severe early-onset genetic disorders. Even if the mutation is apparently de novo, there is a recurrence risk due to parental germ line mosaicism, depending on in which gonadal generation the mutation occurred. METHODS: We demonstrate the power of using SMRT sequencing and ddPCR to determine parental origin and allele frequencies of de novo mutations in germ cells in two families whom had undergone assisted reproduction...
September 16, 2017: Prenatal Diagnosis
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