UTHealth Turner Syndrome Research Registry

Purpose

The investigators will conduct genetic comparisons between Turner Syndrome (TS) patients with and without Bicuspid Aortic Valve (BAV) to identify causative agents of BAV in people with TS. The investigators will correlate the patterns and prevalence of structural heart defects in TS women with emerging molecular data to identify patients who are at high risk for cardiovascular complications

Condition

  • Turner Syndrome

Eligibility

Eligible Ages
All ages
Eligible Genders
Female
Accepts Healthy Volunteers
No

Inclusion Criteria

  • Diagnosis of Turner Syndrome

Exclusion Criteria

  • Diagnosis excluding Turner Syndrome

Study Design

Phase
Study Type
Observational [Patient Registry]
Observational Model
Cohort
Time Perspective
Prospective

Arm Groups

ArmDescriptionAssigned Intervention
Patients with Turner Syndrome Chromosomal diagnosis and typical features
  • Genetic: Research genetic tests
    DNA and tissue-based tests: karyotype, copy number variants, genome-wide association studies and induced pluripotent stem cells
Unaffected controls Normal females and unaffected family members
  • Genetic: Research genetic tests
    DNA and tissue-based tests: karyotype, copy number variants, genome-wide association studies and induced pluripotent stem cells

Recruiting Locations

University of Texas Health Science Center Houston
Houston, Texas 77030
Contact:
Jacqueline Jennings
TSRegistry@uth.tmc.edu

More Details

Status
Recruiting
Sponsor
The University of Texas Health Science Center, Houston

Study Contact

Siddharth Prakash, MD, PhD
7135007003
Siddharth.K.Prakash@uth.tmc.edu

Detailed Description

Turner syndrome (TS) is a common chromosomal disorder that affects approximately 1 in 2500 live female births. Complete or partial monosomy of one of the X chromosomes in a female is associated with various congenital heart defects (CHDs), which include aortic dilatation, coarctation of aorta and BAV. Congenital cardiovascular defects related to CHD are the leading cause of death in women with TS. The Turner Syndrome Network Registry (TRN Registry) and genetic sample repository can address gaps in knowledge of CHD in TS by facilitating the recognition of demographic and genetic patterns. TRN Registry-based research can improve surveillance of TS patients who are at risk for CHD and provide valuable insight into genetic components of CHD. The investigators will recruit TS patients into the TRN Registry and obtain blood and/or saliva samples after informed consent. The genetic diagnosis of TS will be confirmed using chromosomal microarrays. The array data will be also be used to identify genomic copy number variants, and rare variants in protein coding genes will be determined by exome sequencing. The investigators will derive induced pluripotent stem cells from some participants to determine why CHD is so prevalent in TS. CHD risk genes will be identified in comparisons between TS cases with and without congenital heart defects. To facilitate these comparisons, the investigators will abstract the demographic and medical data of registry participants from questionnaires and medical records. Imaging will be used to confirm the diagnosis of CHD and to determine the prevalence and severity of additional cardiovascular defects.