The state of Turner syndrome science: Are we on the threshold of discovery?

@article{Kruszka2019TheSO,
  title={The state of Turner syndrome science: Are we on the threshold of discovery?},
  author={Paul S Kruszka and Michael Silberbach},
  journal={American Journal of Medical Genetics Part C: Seminars in Medical Genetics},
  year={2019},
  volume={181},
  pages={4 - 6}
}
  • P. Kruszka, M. Silberbach
  • Published 1 March 2019
  • Medicine
  • American Journal of Medical Genetics Part C: Seminars in Medical Genetics
Turner syndrome (TS), a genetic condition affecting roughly 1 in 2,000 females, is caused by a complete or partial loss of the second sex chromosome. This special issue of the American Journal of Medical Genetics Part C is a collection of research and clinical care reviews in TS from an international group of physician and scientist leaders who attended the 2018 “Turner Network Resource Symposium: Turner Science in the 21st Century”, held in Arlington Virginia, July 15th‐17th, 2018. Both this… 
A Review of Recent Developments in Turner Syndrome Research
TLDR
A review of the recent literature surrounding the symptoms, mechanisms, diagnosis, and treatment of Turner syndrome with a focus on cardiovascular manifestations and genome-wide epigenetic changes holds promise for providing insights that will improve the medical management of individuals with Turner syndrome.
Turner syndrome in diverse populations
TLDR
This study presents consistent clinical findings from global populations with TS and demonstrates that facial analysis technology can accurately distinguish TS from the general population and Noonan syndrome.
Recognition and management of adults with Turner syndrome: From the transition of adolescence through the senior years
TLDR
This article focuses on the recognition and management of Turner syndrome from adolescents in transition, through adulthood, and into another transition as older women.
The molecular structure and biological functions of RNA methylation, with special emphasis on the roles of RNA methylation in autoimmune diseases
TLDR
This review summarizes the mechanisms, molecular structures of RNA methylations and their roles in biological functions and identifies N1-methyladenosine (m1A), N6,2-O-dimethyladenosines (m6Am), and 7-methylguanosine ( m7G) RNA modifications, and their role in RA and SLE need to be further studied.
Turner’s Syndrome and Eating and Weight Disorders
  • M. Cuzzolaro
  • Medicine
    Hidden and Lesser-known Disordered Eating Behaviors in Medical and Psychiatric Conditions
  • 2021

References

SHOWING 1-10 OF 22 REFERENCES
Proceedings from the Turner Resource Network symposium: The crossroads of health care research and health care delivery
TLDR
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.
Clinical practice guidelines for the care of girls and women with Turner syndrome: proceedings from the 2016 Cincinnati International Turner Syndrome Meeting.
TLDR
An international effort that started with exploratory meetings in 2014 in both Europe and the USA, and culminated with a Consensus Meeting held in Cincinnati, Ohio, USA in July 2016, the present guidelines related to the efficacy and most optimal treatment of short stature, infertility, hypertension, and hormonal replacement therapy.
Epigenetics and genomics in Turner syndrome
TLDR
The different genetic mechanisms behind differential gene expression are reviewed, potential key‐genes essential to the comorbidities seen in TS and other X chromosome aneuploidy syndromes are highlighted, and several genes seem to affect the prevalence of bicuspid aortic valve.
Turner syndrome: New insights from prenatal genomics and transcriptomics
  • D. Bianchi
  • Medicine
    American journal of medical genetics. Part C, Seminars in medical genetics
  • 2019
TLDR
Research studies on cell‐free mRNA in second trimester amniotic fluid demonstrate consistent dysregulation of genes involved in the hematologic, immune, and neurologic systems, which suggests that some of the pathophysiology of Turner syndrome occurs early in fetal life and presents novel opportunities for consideration of antenatal treatments.
The Turner syndrome research registry: Creating equipoise between investigators and participants
TLDR
The purpose of this article is to introduce the concept, architecture, and currently available content of the TSRR, in anticipation of inviting proposals to utilize registry resources.
The mouse as a model of fundamental concepts related to Turner syndrome
  • A. Arnold
  • Biology
    American journal of medical genetics. Part C, Seminars in medical genetics
  • 2019
TLDR
Several mouse models, used primarily for the study of sex differences in physiology and disease, also produce XO mice that can be investigated to understand the effects of X monosomy, and will help to achieve a better appreciation of the contribution of these specific X genes to the syndromic features of TS.
A hypothesis: Could telomere length and/or epigenetic alterations contribute to infertility in females with Turner syndrome?
  • C. Jackson-Cook
  • Biology
    American journal of medical genetics. Part C, Seminars in medical genetics
  • 2019
TLDR
A goal of this review is to inspire researchers to use new technological advances to better characterize the components of the biological cascade leading to early germ cell loss in females with Turner syndrome.
The genetic basis of Turner syndrome aortopathy
TLDR
It is proposed that the combination of TIMP1 haploinsufficiency and deleterious variants in TIMP3 significantly increases the risk of BAV aortopathy in Turner syndrome, and suggested that TIMP 1 hemizygosity may play a role in euploid male aortic disease.
Cardiometabolic health in Turner syndrome
  • S. Davis, M. Geffner
  • Medicine, Biology
    American journal of medical genetics. Part C, Seminars in medical genetics
  • 2019
TLDR
Couning for the increased risk of cardiometabolic diseases as well as efforts to prevent or lower this risk should be routinely provided in the care of all patients with TS.
A strategic research alliance: Turner syndrome and sex differences
TLDR
It is argued that integrating the study of TS with sex differences offers a mutually beneficial alliance to identify contributions of the sex chromosomes to human development, health, and disease.
...
...