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1. Proceedings from the Turner Resource Network symposium: The crossroads of health care research and health care delivery

Author

Backeljauw, Philippe F, Bondy, Carolyn, Chernausek, Steven D, Cernich, Joseph T, Cole, David A, Fasciano, Laura P, Foodim, Joan, Hawley, Scott, Hong, David S, Knickmeyer, Rebecca C, Kruszka, Paul, Lin, Angela E, Lippe, Barbara M, Lorigan, Gary A, Maslen, Cheryl L, Mauras, Nelly, Page, David C, Pemberton, Victoria L, Prakash, Siddharth K, Quigley, Charmian A, Ranallo, Kelly C, Reiss, Allan L, Sandberg, David E, Scurlock, Cindy, and Silberbach, Michael

Subjects
Biological Sciences, Biomedical and Clinical Sciences, Genetics, Rare Diseases, Pediatric, 7.1 Individual care needs, Management of diseases and conditions, Congenital, Good Health and Well Being, Delivery of Health Care, Female, Genetic Research, Health Services Research, Humans, Registries, Sex Chromosomes, Turner Syndrome, monosomy X, Turner syndrome, women, congenital heart disease, genetics, neurodevelopment, chromosome, sex chromosomes, women's health, quality of life, Clinical Sciences, Clinical sciences
Abstract

Turner syndrome, a congenital condition that affects ∼1/2,500 births, results from absence or structural alteration of the second sex chromosome. There has been substantial effort by numerous clinical and genetic research groups to delineate the clinical, pathophysiological, cytogenetic, and molecular features of this multisystem condition. Questions about the molecular-genetic and biological basis of many of the clinical features remain unanswered, and health care providers and families seek improved care for affected individuals. The inaugural "Turner Resource Network (TRN) Symposium" brought together individuals with Turner syndrome and their families, advocacy group leaders, clinicians, basic scientists, physician-scientists, trainees and other stakeholders with interest in the well-being of individuals and families living with the condition. The goal of this symposium was to establish a structure for a TRN that will be a patient-powered organization involving those living with Turner syndrome, their families, clinicians, and scientists. The TRN will identify basic and clinical questions that might be answered with registries, clinical trials, or through bench research to promote and advocate for best practices and improved care for individuals with Turner syndrome. The symposium concluded with the consensus that two rationales justify the creation of a TRN: inadequate attention has been paid to the health and psychosocial issues facing girls and women who live with Turner syndrome; investigations into the susceptibility to common disorders such as cardiovascular or autoimmune diseases caused by sex chromosome deficiencies will increase understanding of disease susceptibilities in the general population.

Published
2015

4. Proceedings from the Turner Resource Network symposium: The crossroads of health care research and health care delivery

Author

Massachusetts Institute of Technology. Department of Biology, Page, David C, Backeljauw, Philippe F., Bondy, Carolyn, Chernausek, Steven D., Cernich, Joseph T., Cole, David A., Fasciano, Laura P., Foodim, Joan, Hawley, Scott, Hong, David S., Knickmeyer, Rebecca C., Kruszka, Paul, Lin, Angela E., Lippe, Barbara M., Lorigan, Gary A., Maslen, Cheryl L., Mauras, Nelly, Pemberton, Victoria L., Prakash, Siddharth K., Quigley, Charmian A., Ranallo, Kelly C., Reiss, Allan L., Sandberg, David E., Scurlock, Cindy, Silberbach, Michael, Massachusetts Institute of Technology. Department of Biology, Page, David C, Backeljauw, Philippe F., Bondy, Carolyn, Chernausek, Steven D., Cernich, Joseph T., Cole, David A., Fasciano, Laura P., Foodim, Joan, Hawley, Scott, Hong, David S., Knickmeyer, Rebecca C., Kruszka, Paul, Lin, Angela E., Lippe, Barbara M., Lorigan, Gary A., Maslen, Cheryl L., Mauras, Nelly, Pemberton, Victoria L., Prakash, Siddharth K., Quigley, Charmian A., Ranallo, Kelly C., Reiss, Allan L., Sandberg, David E., Scurlock, Cindy, and Silberbach, Michael

Abstract

Turner syndrome, a congenital condition that affects ∼1/2,500 births, results from absence or structural alteration of the second sex chromosome. There has been substantial effort by numerous clinical and genetic research groups to delineate the clinical, pathophysiological, cytogenetic, and molecular features of this multisystem condition. Questions about the molecular-genetic and biological basis of many of the clinical features remain unanswered, and health care providers and families seek improved care for affected individuals. The inaugural “Turner Resource Network (TRN) Symposium” brought together individuals with Turner syndrome and their families, advocacy group leaders, clinicians, basic scientists, physician-scientists, trainees and other stakeholders with interest in the well-being of individuals and families living with the condition. The goal of this symposium was to establish a structure for a TRN that will be a patient-powered organization involving those living with Turner syndrome, their families, clinicians, and scientists. The TRN will identify basic and clinical questions that might be answered with registries, clinical trials, or through bench research to promote and advocate for best practices and improved care for individuals with Turner syndrome. The symposium concluded with the consensus that two rationales justify the creation of a TRN: 1. inadequate attention has been paid to the health and psychosocial issues facing girls and women who live with Turner syndrome; 2. investigations into the susceptibility to common disorders such as cardiovascular or autoimmune diseases caused by sex chromosome deficiencies will increase understanding of disease susceptibilities in the general population., National Science Foundation (U.S.) (AGS-0944121), United States. Department of Energy (DE-FG02-94ER61937), United States. Environmental Protection Agency (XA-83600001-1)

Published
2017

6. Turner Syndrome and Associated Problems in Turkish Children: A Multicenter Study

Author

Yeşilkaya, Ediz, primary, Bereket, Abdullah, additional, Darendeliler, Feyza, additional, Baş, Firdevs, additional, Poyrazoğlu, Şükran, additional, Aydın, Banu Küçükemre, additional, Darcan, Şükran, additional, Dündar, Bumin, additional, Büyükinan, Muammer, additional, Kara, Cengiz, additional, Sarı, Erkan, additional, Adal, Erdal, additional, Akıncı, Ayşehan, additional, Atabek, Mehmet Emre, additional, Demirel, Fatma, additional, Çelik, Nurullah, additional, Özkan, Behzat, additional, Özhan, Bayram, additional, Orbak, Zerrin, additional, Ersoy, Betül, additional, Doğan, Murat, additional, Ataş, Ali, additional, Turan, Serap, additional, Gökşen, Damla, additional, Tarım, Ömer, additional, Yüksel, Bilgin, additional, Ercan, Oya, additional, Hatun, Şükrü, additional, Şimşek, Enver, additional, Ökten, Ayşenur, additional, Abacı, Ayhan, additional, Döneray, Hakan, additional, Özbek, Mehmet Nuri, additional, Keskin, Mehmet, additional, Önal, Hasan, additional, Akyürek, Nesibe, additional, Bulan, Kezban, additional, Tepe, Derya, additional, Emeksiz, Hamdi Cihan, additional, Demir, Korcan, additional, Kızılay, Deniz, additional, Topaloğlu, Ali Kemal, additional, Eren, Erdal, additional, Özen, Samim, additional, Abalı, Saygın, additional, Akın, Leyla, additional, Eklioğlu, Beray Selver, additional, Kaba, Sultan, additional, Anık, Ahmet, additional, Baş, Serpil, additional, Ünüvar, Tolga, additional, Sağlam, Halil, additional, Bolu, Semih, additional, Özgen, Tolga, additional, Doğan, Durmuş, additional, Çakır, Esra Deniz, additional, Şen, Yaşar, additional, Andıran, Nesibe, additional, Çizmecioğlu, Filiz, additional, Evliyaoğlu, Olcay, additional, Karagüzel, Gülay, additional, Pirgon, Özgür, additional, Çatlı, Gönül, additional, Can, Hatice Dilek, additional, Gürbüz, Fatih, additional, Binay, Çiğdem, additional, Baş, Veysel Nijat, additional, Fidancı, Kürşat, additional, Polat, Adem, additional, Gül, Davut, additional, Açıkel, Cengizhan, additional, Demirbilek, Hüseyin, additional, Cinaz, Peyami, additional, and Bondy, Carolyn, additional

Published
2015
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7. Autosomal and X Chromosome Structural Variants Are Associated with Congenital Heart Defects in Turner Syndrome: The NHLBI GenTAC Registry.

Author

Prakash, Siddharth K., Bondy, Carolyn A., Maslen, Cheryl L., Silberbach, Michael, Lin, Angela E., Perrone, Laura, Limongelli, Giuseppe, Michelena, Hector I., Bossone, Eduardo, Citro, Rodolfo, Lemaire, Scott A., Body, Simon C., and Milewicz, Dianna M.

Abstract

Turner Syndrome(TS) is adevelopmental disorder caused by partial or complete loss of one sex chromosome. Bicuspid aortic valve and other left-sided congenital heart lesions (LSL), including thoracic aortic aneurysms and acute aortic dissections, are 30-50 timesmore frequent in TS than in the general population. In 454 TS subjects, we found that LSL are significantly associated with reduced dosage of Xp genes and increased dosage of Xq genes. We also showed that genome-wide copy number variation is increased in TS and identify a common copy number variant (CNV) in chromosome 12p13.31 that is associated with LSL with an odds ratio of 3.7. This CNV contains three protein-coding genes (SLC2A3, SLC2A14, and NANOGP1) and was previously implicated in congenital heart defects in the 22q11 deletion syndrome. In addition, we identified a subset of rare and recurrent CNVs that are also enriched in nonsyndromic BAV cases. These observations support our hypothesis that X chromosome and autosomal variants affecting cardiac developmental genes may interact to cause the increased prevalence of LSL in TS. [ABSTRACT FROM AUTHOR]

Published
2016
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8. Colaboradores

Author

Backeljauw, Philippe F., Battelino, Tadej, Bondy, Carolyn A., Chandler, Donald Walt, Chia, Dennis J., Chun, Kelly Y., Cohen, Pinchas, Cooke, David W., Couch, Sarah C., Daniels, Stephen R., Dattani, Mehul Tulsidas, De León, Diva D., Deladoëy, Johnny, Diamond, Frank B., Jr., Dunkel, Leo, Flück, Christa E., Haller, Michael J., Kublaoui, Bassil, Langdon, David R., Lee, Peter A., Levine, Michael A., Lustig, Robert H., Majzoub, Joseph A., Menon, Ram K., Miller, Walter L., Muglia, Louis J., Nakamoto, Jon, Palmert, Mark R., Pepkowitz, Samuel H., Phillip, Moshe, Radovick, Sally, Rapaport, Robert, Rivkees, Scott A., Root, Allen W., Rosenfeld, Ron G., Rosenfield, Robert L., Saenger, Paul, Schatz, Desmond A., Sperling, Mark A., Srivatsa, Abhinash, Stanley, Charles A., Stratakis, Constantine A., Tamborlane, William V., Thornton, Paul S., Trucco, Massimo, Vliet, Guy Van, Waguespack, Steven G., Weinzimer, Stuart A., Weiss, Ram, Winter, William E., Witchel, Selma Feldman, and Ying, Anita K.

Published
2015
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9. Autosomal and X Chromosome Structural Variants Are Associated with Congenital Heart Defects in Turner Syndrome: The NHLBI GenTAC Registry

Author

Hector I. Michelena, Dianna M. Milewicz, Eduardo Bossone, Scott A. LeMaire, Carolyn A. Bondy, Rodolfo Citro, Angela E. Lin, Siddharth K. Prakash, Simon C. Body, Michael Silberbach, GenTAC Registry Investigators, Giuseppe Limongelli, Cheryl L. Maslen, Laura Perrone, Prakash, Sk, Bondy, Ca, Maslen, Cl, Silberbach, M, Lin, Ae, Perrone, L, Limongelli, G, Michelena, Hi, Bossone, E, Citro, R, Lemaire, Sa, Body, Sc, Milewicz, Dm, Prakash, Siddharth K, Bondy, Carolyn A., Maslen, Cheryl L., Silberbach, Michael, Lin, Angela E., Perrone, Laura, Limongelli, Giuseppe, Michelena, Hector I., Bossone, Eduardo, Citro, Rodolfo, Lemaire, Scott A., Body, Simon C., and Milewicz, Dianna M.

Subjects
0301 basic medicine, Adult, Heart Defects, Congenital, Male, DNA Copy Number Variations, Genotype, Population, Gene Dosage, Glucose Transport Proteins, Facilitative, Turner Syndrome, Biology, Article, congenital heart defect, genomic, X chromosome, 03 medical and health sciences, Bicuspid aortic valve, 22q11 Deletion Syndrome, Genetic, Genes, X-Linked, Turner syndrome, Genetics, medicine, Humans, Copy-number variation, education, Genetics (clinical), Homeodomain Proteins, education.field_of_study, Chromosomes, Human, X, Glucose Transporter Type 3, valvular heart disease, Chromosome, medicine.disease, United States, 030104 developmental biology, Female, National Heart, Lung, and Blood Institute (U.S.), Transcription Factors
Abstract

Turner Syndrome (TS) is a developmental disorder caused by partial or complete loss of one sex chromosome. Bicuspid aortic valve and other left-sided congenital heart lesions (LSL), including thoracic aortic aneurysms and acute aortic dissections, are 30–50 times more frequent in TS than in the general population. In 454 TS subjects, we found that LSL are significantly associated with reduced dosage of Xp genes and increased dosage of Xq genes. We also showed that genome-wide copy number variation is increased in TS and identify a common copy number variant (CNV) in chromosome 12p13.31 that is associated with LSL with an odds ratio of 3.7. This CNV contains three protein-coding genes (SLC2A3, SLC2A14, and NANOGP1) and was previously implicated in congenital heart defects in the 22q11 deletion syndrome. In addition, we identified a subset of rare and recurrent CNVs that are also enriched in non-syndromic BAV cases. These observations support our hypothesis that X chromosome and autosomal variants affecting cardiac developmental genes may interact to cause the increased prevalence of LSL in TS. © 2016 Wiley Periodicals, Inc.

Published
2016

10. Turner Syndrome and Associated Problems in Turkish Children: A Multicenter Study

Author

Ahmet Anık, Hakan Doneray, Ayşehan Akıncı, Kursat Fidanci, Olcay Evliyaoğlu, Davut Gül, Ali Ataş, Serpil Bas, Betül Ersoy, Derya Tepe, Erdal Eren, Cigdem Binay, Mehmet Nuri Ozbek, Carolyn Bondy, Hasan Önal, Tolga Ünüvar, Beray Selver Eklioğlu, Şükran Darcan, Erdal Adal, Feyza Darendeliler, Gönül Çatlı, Semih Bolu, Bayram Özhan, Nesibe Andiran, Ayşenur Ökten, Fatma Demirel, Yaşar Şen, Huseyin Demirbilek, Şükrü Hatun, Enver Simsek, Mehmet Keskin, Behzat Özkan, Sultan Kaba, Adem Polat, Kezban Bulan, Muammer Buyukinan, Halil Saglam, Hatice Dilek Can, Bumin Dündar, Oya Ercan, Damla Gökşen, Nurullah Çelik, Deniz Özalp Kızılay, Abdullah Bereket, Ömer Tarım, Cengiz Kara, Erkan Sari, Ayhan Abaci, Gülay Karagüzel, Peyami Cinaz, Filiz Mine Çizmecioğlu, Cengizhan Açıkel, Bilgin Yüksel, Ozgur Pirgon, Fatih Gurbuz, Nesibe Akyürek, Durmuş Doğan, Saygin Abali, Banu Kucukemre Aydin, Korcan Demir, Ediz Yeşilkaya, Leyla Akin, Serap Turan, Tolga Özgen, Esra Deniz Çakır, Murat Doğan, Veysel Nijat Baş, Ali Kemal Topaloglu, Firdevs Bas, Sukran Poyrazoglu, Hamdi Cihan Emeksiz, Zerrin Orbak, Samim Özen, Mehmet Emre Atabek, Çukurova Üniversitesi, OMÜ, ÖZBEK, MELİKE, ÖZGEN, İLKER TOLGA, POLAT, AYTEN, Ege Üniversitesi, Selçuk Üniversitesi, Yesilkaya, Ediz, Bereket, Abdullah, Darendeliler, Feyza, Bas, Firdevs, Poyrazoglu, Sukran, Aydin, Banu Kucukemre, Darcan, Sukran, Dundar, Bumin, Buyukinan, Muammer, Kara, Cengiz, Sari, Erkan, Adal, Erdal, Akinci, Aysehan, Atabek, Mehmet Emre, Demirel, Fatma, Celik, Nurullah, Ozkan, Behzat, Ozhan, Bayram, Orbak, Zerrin, Ersoy, Betul, Dogan, Murat, Atas, Ali, Turan, Serap, Goksen, Damla, Tarim, Omer, Yuksel, Bilgin, Ercan, Oya, Hatun, Sukru, Simsek, Enver, Okten, Aysenur, Abaci, Ayhan, Doneray, Hakan, Ozbek, Mehmet Nuri, Keskin, Mehmet, Onal, Hasan, Akyurek, Nesibe, Bulan, Kezban, Tepe, Derya, Emeksiz, Hamdi Cihan, Demir, Korcan, Kizilay, Deniz, Topaloglu, Ali Kemal, Eren, Erdal, Ozen, Samim, Abali, Saygin, Akin, Leyla, Eklioglu, Beray Selver, Kaba, Sultan, Anik, Ahmet, Bas, Serpil, Unuvar, Tolga, Saglam, Halil, Bolu, Semih, Ozgen, Tolga, Dogan, Durmus, Cakir, Esra Deniz, Sen, Yasar, Andiran, Nesibe, Cizmecioglu, Filiz, Evliyaoglu, Olcay, Karaguzel, Gulay, Pirgon, Ozgur, Catli, Gonul, Can, Hatice Dilek, Gurbuz, Fatih, Binay, Cigdem, Bas, Veysel Nijat, Fidanci, Kursat, Polat, Adem, Gul, Davut, Acikel, Cengizhan, Demirbilek, Huseyin, Cinaz, Peyami, and Bondy, Carolyn

Subjects
Pediatrics, Turkey, Turkish, Endocrinology, Diabetes and Metabolism, clinical evaluation, retrospective study, Turner Syndrome, genetic analysis, Comorbidity, Diagnostic features, preschool child, Endocrinology, cardiovascular disease, newborn, insulin resistance, Turner syndrome, Prevalence, Medicine, genetics, associated problems, Child, Children, X chromosome, comparative study, diagnostic features, ABNORMALITIES, adult, throat disease, CELIAC-DISEASE, Karyotype, clinical trial, karyotyping, Prognosis, delayed puberty, Survival Rate, female, Child, Preschool, Nationwide study, Associated problems, GIRLS, language, urinary tract malformation, Original Article, Female, medicine.medical_specialty, Monosomy, Adolescent, Endokrinoloji ve Metabolizma, HEART-DISEASE, Article, learning disorder, children, follow up, Humans, human, MELANOCYTIC NEVI, Retrospective Studies, RENAL MALFORMATIONS, AORTIC-VALVE, skin disease, business.industry, disease association, dyslipidemia, Case-control study, Infant, Newborn, Infant, Retrospective cohort study, gastrointestinal malformation, case control study, medicine.disease, osteoporosis, language.human_language, clinical feature, karyotype, impaired glucose tolerance, multicenter study, CARDIOVASCULAR MALFORMATIONS, Pediatri, Karyotyping, Case-Control Studies, Pediatrics, Perinatology and Child Health, RISK-FACTORS, business, Follow-Up Studies
Abstract

WOS: 000351307200005, PubMed ID: 25800473, Objective: Turner syndrome (TS) is a chromosomal disorder caused by complete or partial X chromosome monosomy that manifests various clinical features depending on the karyotype and on the genetic background of affected girls. This study aimed to systematically investigate the key clinical features of TS in relationship to karyotype in a large pediatric Turkish patient population. Methods: Our retrospective study included 842 karyotype-proven TS patients aged 0-18 years who were evaluated in 35 different centers in Turkey in the years 2013-2014. Results: The most common karyotype was 45, X (50.7%), followed by 45, X/46, XX (10.8%), 46, X, i(Xq) (10.1%) and 45, X/46, X, i(Xq) (9.5%). Mean age at diagnosis was 10.2 +/- 4.4 years. The most common presenting complaints were short stature and delayed puberty. Among patients diagnosed before age one year, the ratio of karyotype 45, X was significantly higher than that of other karyotype groups. Cardiac defects (bicuspid aortic valve, coarctation of the aorta and aortic stenosis) were the most common congenital anomalies, occurring in 25% of the TS cases. This was followed by urinary system anomalies (horseshoe kidney, double collector duct system and renal rotation) detected in 16.3%. Hashimoto's thyroiditis was found in 11.1% of patients, gastrointestinal abnormalities in 8.9%, ear nose and throat problems in 22.6%, dermatologic problems in 21.8% and osteoporosis in 15.3%. Learning difficulties and/or psychosocial problems were encountered in 39.1%. Insulin resistance and impaired fasting glucose were detected in 3.4% and 2.2%, respectively. Dyslipidemia prevalence was 11.4%. Conclusion: This comprehensive study systematically evaluated the largest group of karyotype-proven TS girls to date. The karyotype distribution, congenital anomaly and comorbidity profile closely parallel that from other countries and support the need for close medical surveillance of these complex patients throughout their lifespan.

Published
2015

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