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https://www.readbyqxmd.com/read/29025208/an-atypical-case-of-noonan-syndrome-with-kras-mutation-diagnosed-by-targeted-exome-sequencing
#1
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
#2
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
#3
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
#4
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
#5
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 the 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
https://www.readbyqxmd.com/read/28914499/copy-number-variants-of-ras-mapk-pathway-genes-in-patients-with-isolated-cryptorchidism
#6
F Rodríguez, C Vallejos, F Giraudo, N Unanue, M I Hernández, P Godoy, S Célis, R Martín-Arenas, M Palomares-Bralo, K E Heath, M T López, F Cassorla
Cryptorchidism is the most common congenital disorder in boys, but the cause for most cases remains unknown. Patients with Noonan Syndrome are characterized by a typical face, growth retardation, congenital heart defects, learning disabilities and cryptorchidism. Copy number variations of Ras/MAPK pathway genes are unusual in patients with several clinical features of Noonan Syndrome; however, they have not been studied in patients with only one feature of this condition, such as cryptorchidism. Our aim was to determine whether patients with isolated cryptorchidism exhibit Ras/MAPK pathway gene copy number variations (CNVs)...
September 2017: Andrology
https://www.readbyqxmd.com/read/28911943/heterozygous-deletion-of-akt1-rescues-cardiac-contractility-but-not-hypertrophy-in-a-mouse-model-of-noonan-syndrome-with-multiple-lentigines
#7
Rajika Roy, Maike Krenz
Noonan Syndrome with Multiple Lentigines (NSML) is associated with congenital heart disease in form of pulmonary valve stenosis and hypertrophic cardiomyopathy (HCM). Genetically, NSML is primarily caused by mutations in the non-receptor protein tyrosine phosphatase SHP2. Importantly, certain SHP2 mutations such as Q510E can cause a particularly severe form of HCM with heart failure in infancy. Due to lack of insight into the underlying pathomechanisms, an effective custom-tailored therapy to prevent heart failure in these patients has not yet been found...
September 11, 2017: Journal of Molecular and Cellular Cardiology
https://www.readbyqxmd.com/read/28911804/case-report-left-ventricular-noncompaction-cardiomyopathy-and-rasopathies
#8
Juli Ann Sublett, Carlos Enrique Prada, John Lynn Jefferies
The following is a case report of 6 patients with Noonan syndrome (NS) and/or a related RASsopathy that also have evidence of left ventricular noncompaction cardiomyopathy (LVNC). Noonan syndrome,a type of RASopathy, is an autosomal dominant disorder that is typically associated with congenital heart defects and hypertrophic cardiomyopathy. There have been minimal reports of Noonan syndrome or other RASopathy and the association of LVNC. This report promulgates 6 nonrelated cases of Noonan syndrome or unspecified RASopathy and LVNC...
September 12, 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/28894588/dysplastic-pulmonary-valve-stenosis-associated-with-unilateral-absent-first-metacarpal-a-rare-association
#9
Ashwin Kodliwadmath
CONTEXT: Dysplastic pulmonary valve stenosis is a less common variety of valvular pulmonary stenosis. It is known to be part of Noonan syndrome. Bony hand anomalies in patients of pulmonary stenosis are very rare. CASE REPORT: A 50-year-old lady, with no significant past history, presented with slowly progressive breathlessness and fatigue, and had progressed from NYHA class 1 to 2 over 2 years. She had unilateral absent first metacarpal and diagnosed on workup to have dysplastic pulmonary valve stenosis and was treated with balloon valvuloplasty...
2017: SAGE open medical case reports
https://www.readbyqxmd.com/read/28884940/variable-phenotypic-expression-in-a-large-noonan-syndrome-family-segregating-a-novel-sos1-mutation
#10
Dorothée C van Trier, Tuula Rinne, Kees Noordam, Jos M Draaisma, Ineke van der Burgt
Noonan syndrome (NS) is an autosomal dominant multisystem condition with a variable phenotype. The most characteristic features are short stature, congenital heart defects, and recognizable facial features. Mutations in SOS1 are found in 10-20% of patients with NS. Different genotype-phenotype studies mention correlations between SOS1 mutations and some features, such as ectodermal abnormalities and specific facial features. We present a large NS family with a novel pathogenic mutation; SOS1 c.3134C>G, p...
September 8, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28873355/pulmonary-interstitial-glycogenosis-associated-with-a-spectrum-of-neonatal-pulmonary-disorders
#11
Ernest Cutz, Rose Chami, Sharon Dell, Jacob Langer, David Manson
Primary or isolated pulmonary interstitial glycogenosis (PIG) is a rare disease presenting as tachypnea and hypoxemia during the perinatal period. A diffuse interstitial infiltrate with focal hyperinflation is visible on chest imaging. The biopsy findings include diffuse expansion of the interstitium by spindle-shaped cells with pale cytoplasm that, on electron microscopy (EM), are poorly differentiated mesenchymal cells containing abundant monoparticulate glycogen. This glycogenosis appears to be a transient abnormality, usually with a favorable prognosis...
September 2, 2017: Human Pathology
https://www.readbyqxmd.com/read/28859450/ecomment-noonan-syndrome-and-biventricular-hypertrophic-obstructive-cardiomyopathy
#12
Michail Spartalis, Eleni Tzatzaki, Antonios Athanasiou, Eleftherios Spartalis
No abstract text is available yet for this article.
September 1, 2017: Interactive Cardiovascular and Thoracic Surgery
https://www.readbyqxmd.com/read/28816424/cover-image-volume-173a-number-9-september-2017
#13
Paul Kruszka, Antonio R Porras, Yonit A Addissie, Angélica Moresco, Sofia Medrano, Gary T K Mok, Gordon K C Leung, Cedrik Tekendo-Ngongang, Annette Uwineza, Meow-Keong Thong, Premala Muthukumarasamy, Engela Honey, Ekanem N Ekure, Ogochukwu J Sokunbi, Nnenna Kalu, Kelly L Jones, Julie D Kaplan, Omar A Abdul-Rahman, Lisa M Vincent, Amber Love, Khadija Belhassan, Karim Ouldim, Ihssane El Bouchikhi, Anju Shukla, Katta M Girisha, Siddaramappa J Patil, Nirmala D Sirisena, Vajira H W Dissanayake, C Sampath Paththinige, Rupesh Mishra, Eva Klein-Zighelboim, Bertha E Gallardo Jugo, Miguel Chávez Pastor, Hugo H Abarca-Barriga, Steven A Skinner, Eloise J Prijoles, Eben Badoe, Ashleigh D Gill, Vorasuk Shotelersuk, Patroula Smpokou, Monisha S Kisling, Carlos R Ferreira, Leon Mutesa, Andre Megarbane, Antonie D Kline, Amy Kimball, Emmy Okello, Peter Lwabi, Twalib Aliku, Emmanuel Tenywa, Nonglak Boonchooduang, Pranoot Tanpaiboon, Antonio Richieri-Costa, Ambroise Wonkam, Brian H Y Chung, Roger E Stevenson, Marshall Summar, Kausik Mandal, Shubha R Phadke, María G Obregon, Marius G Linguraru, Maximilian Muenke
The cover image, by Paul Kruszka et al., is based on the Original Article Noonan Syndrome in Diverse Populations, DOI: 10.1002/ajmg.a.38362. Design Credit: Darryl Leja.
September 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28804206/validation-of-auxological-reference-values-for-japanese-children-with-noonan-syndrome-and-comparison-with-growth-in-children-with-turner-syndrome
#14
Tsuyoshi Isojima, Satoru Sakazume, Tomonobu Hasegawa, Tsutomu Ogata, Toshio Nakanishi, Toshiro Nagai, Susumu Yokoya
We recently published growth references for Japanese individuals with Noonan syndrome (NS). However, it is uncertain whether these references can be used to evaluate the longitudinal growth of children with NS. In addition, these charts did not include detailed values suitable for clinical practice, and they did not include weight-for-height (WFH) charts. In the present study, we validated the references and established new WFH charts for children with NS. In addition, we investigated the growth patterns of these children by comparing them with those of children with Turner syndrome (TS), as well as with those of the normal population...
2017: Clinical Pediatric Endocrinology: Case Reports and Clinical Investigations: Official Journal of the Japanese Society for Pediatric Endocrinology
https://www.readbyqxmd.com/read/28777851/-analysis-of-genomic-copy-number-variations-in-36-fetuses-with-heart-malformations-using-next-generation-sequencing
#15
Ming Gao, Hong Pang, Yanhui Zhao, Jesse Li-Ling
OBJECTIVE: To explore the implications of copy number variations (CNVs) for congenital heart diseases (CHD) in fetuses. METHODS: G-banding karyotype analysis and next-generation sequencing (NGS) technology were performed on cord blood samples derived from 36 fetuses with CHD. Pathological implication of the CNVs was explored through comparison against the International Genomic Polymorphism Database (http://www.ebi.ac.uk/dgva/), Phenotype Database (http://decipher...
August 10, 2017: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
https://www.readbyqxmd.com/read/28777121/raf1-variants-causing-biventricular-hypertrophic-cardiomyopathy-in-two-preterm-infants-further-phenotypic-delineation-and-review-of-literature
#16
Danielle Thompson, Jessica Patrick-Esteve, Jeffrey W Surcouf, Dana Rivera, Bianca Castellanos, Pooja Desai, Christian Lilje, Yves Lacassie, Michael Marble, Regina Zambrano
Noonan syndrome (NS) is an autosomal dominant disorder characterized by distinctive facial features, short neck, short stature, congenital heart defects, pectus deformities, and variable developmental delays. NS is genetically heterogeneous as pathogenic variants in several genes involved in the Ras/mitogen-activated protein kinase pathway have been associated with a NS phenotype. Overall, 50% of patients harbor pathogenic variants in PTPN11, whereas 3-17% of patients have variants in RAF1. We present two premature neonates with progressive biventricular hypertrophy found to have RAF1 variants in the CR2 domain...
August 3, 2017: Clinical Dysmorphology
https://www.readbyqxmd.com/read/28768581/cardiac-defects-morbidity-and-mortality-in-patients-affected-by-rasopathies-carnet-study-results
#17
Giulio Calcagni, Giuseppe Limongelli, Angelo D'Ambrosio, Francesco Gesualdo, M Cristina Digilio, Anwar Baban, Sonia B Albanese, Paolo Versacci, Enrica De Luca, Giovanni B Ferrero, Giuseppina Baldassarre, Gabriella Agnoletti, Elena Banaudi, Jan Marek, Juan P Kaski, Giulia Tuo, M Giovanna Russo, Giuseppe Pacileo, Ornella Milanesi, Daniela Messina, Maurizio Marasini, Francesca Cairello, Roberto Formigari, Maurizio Brighenti, Bruno Dallapiccola, Marco Tartaglia, Bruno Marino
BACKGROUND: RASopathies are developmental disease caused by mutations in genes encoding for signal transducers of the RAS-MAPK cascade. The aim of the present study was to provide a comprehensive description of morbidity and mortality in patients with molecularly confirmed RASopathy. METHODS: A multicentric, observational, retrospective study was conducted in seven European cardiac centres participating to the CArdiac Rasopathy NETwork (CARNET). Clinical records of 371 patients with confirmed molecular diagnosis of RASopathy were reviewed...
July 21, 2017: International Journal of Cardiology
https://www.readbyqxmd.com/read/28760128/analysis-of-musculoskeletal-dysmorphic-abnormalities-of-20-fetuses
#18
Mehmet Nuri Konya, Muhsin Elmas, Çiğdem Özdemir
OBJECTIVES: This study aims to report rates of skeletal abnormalities and their risk factors in light of information obtained in a fetal autopsy series. PATIENTS AND METHODS: The study included 20 fetuses (11 males, 8 females and 1 ambiguous genitalia; mean age 19.3±4.0 weeks; range 16 to 32 week) who underwent autopsy in our hospital between January 2013 and March 2015. Fetuses were systematically classified according to age, gender, family history, abortus week, abortus type, and extremity and organ abnormalities...
August 2017: Eklem Hastalıkları Ve Cerrahisi, Joint Diseases & related Surgery
https://www.readbyqxmd.com/read/28748642/noonan-syndrome-in-diverse-populations
#19
Paul Kruszka, Antonio R Porras, Yonit A Addissie, Angélica Moresco, Sofia Medrano, Gary T K Mok, Gordon K C Leung, Cedrik Tekendo-Ngongang, Annette Uwineza, Meow-Keong Thong, Premala Muthukumarasamy, Engela Honey, Ekanem N Ekure, Ogochukwu J Sokunbi, Nnenna Kalu, Kelly L Jones, Julie D Kaplan, Omar A Abdul-Rahman, Lisa M Vincent, Amber Love, Khadija Belhassan, Karim Ouldim, Ihssane El Bouchikhi, Anju Shukla, Katta M Girisha, Siddaramappa J Patil, Nirmala D Sirisena, Vajira H W Dissanayake, C Sampath Paththinige, Rupesh Mishra, Eva Klein-Zighelboim, Bertha E Gallardo Jugo, Miguel Chávez Pastor, Hugo H Abarca-Barriga, Steven A Skinner, Eloise J Prijoles, Eben Badoe, Ashleigh D Gill, Vorasuk Shotelersuk, Patroula Smpokou, Monisha S Kisling, Carlos R Ferreira, Leon Mutesa, Andre Megarbane, Antonie D Kline, Amy Kimball, Emmy Okello, Peter Lwabi, Twalib Aliku, Emmanuel Tenywa, Nonglak Boonchooduang, Pranoot Tanpaiboon, Antonio Richieri-Costa, Ambroise Wonkam, Brian H Y Chung, Roger E Stevenson, Marshall Summar, Kausik Mandal, Shubha R Phadke, María G Obregon, Marius G Linguraru, Maximilian Muenke
Noonan syndrome (NS) is a common genetic syndrome associated with gain of function variants in genes in the Ras/MAPK pathway. The phenotype of NS has been well characterized in populations of European descent with less attention given to other groups. In this study, individuals from diverse populations with NS were evaluated clinically and by facial analysis technology. Clinical data and images from 125 individuals with NS were obtained from 20 countries with an average age of 8 years and female composition of 46%...
July 27, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28746941/occurrence-of-cranial-neoplasms-in-pediatric-patients-with-noonan-syndrome-receiving-growth-hormone-is-screening-with-brain-mri-prior-to-initiation-of-growth-hormone-indicated
#20
Kanthi Bangalore Krishna, Pedro Pagan, Oscar Escobar, Jadranka Popovic
Noonan syndrome (NS) is associated with short stature. Growth hormone treatment has been FDA approved for use in these patients. Children with NS are at a higher risk of developing benign and malignant proliferative disorders, primary brain tumors being one of them. Since growth hormone therapy can worsen the tumor burden, screening with a brain MRI prior to growth hormone initiation in NS patients is strongly recommended. Here we present two NS patients who developed different primary brain tumors while being on growth hormone therapy...
July 26, 2017: Hormone Research in Pædiatrics
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