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Author Wilson, Golder N.
Source World Health Organization (WHO)-Global Index Medicus
Content type Text
Publisher Wiley-Blackwell
File Format HTM / HTML
Language English
Difficulty Level Medium
Subject Domain (in DDC) Natural sciences & mathematics ♦ Life sciences; biology ♦ Physiology & related subjects ♦ Biochemistry ♦ Genetics and evolution ♦ Natural history of organisms ♦ Technology ♦ Medicine & health ♦ Human anatomy, cytology, histology ♦ Human physiology ♦ Diseases ♦ Manufacture for specific uses ♦ Precision instruments & other devices
Subject Domain (in MeSH) Tissues ♦ Anatomy ♦ Eukaryota ♦ Organisms ♦ Musculoskeletal Diseases ♦ Cardiovascular Diseases ♦ Diseases ♦ Investigative Techniques ♦ Analytical, Diagnostic and Therapeutic Techniques and Equipment ♦ Genetic Phenomena ♦ Biological Sciences ♦ Natural Science Disciplines ♦ Physical Sciences ♦ Persons ♦ Persons
Subject Keyword Discipline Human ♦ Discipline Genetics ♦ Connective Tissue ♦ Metabolism ♦ Pathology ♦ Exome ♦ Genetics, Medical ♦ High-throughput Nucleotide Sequencing ♦ Adult ♦ Arthrogryposis ♦ Diagnosis ♦ Genetics ♦ Child ♦ Ehlers-danlos Syndrome ♦ Complications ♦ Female ♦ Genetic Association Studies ♦ Trends ♦ Humans ♦ Male ♦ Case Reports ♦ Journal Article
Abstract Exome results are reported for two patients with connective tissue dysplasia, one refining a clinical diagnosis of Ehlers-Danlos to Marfan syndrome, the other suggesting arthrogryposis derived from maternofetal Stickler syndrome. Patient 1 had mutations in transthyretin (TTR), fibrillin (FBN1), and a calcium channel (CACNA1A) gene suggesting diagnoses of transthyretin amyloidosis, Marfan syndrome, and familial hemiplegic migraines, respectively. Patient 2 presented with arthrogryposis that was correlated with his mother's habitus and arthritis once COL2A1 mutations suggestive of Stickler syndrome were defined. Although DNA results often defy prediction by the best of clinicians, these patients illustrate needs for ongoing clinical scholarship (e.g., to delineate guidelines for management of mutations like that for hyperekplexia in Patient 2) and for interpretation of polygenic change that is optimized by clinical genetic/syndromology experience (e.g., suggesting acetazolamide therapy for Patient 1 and explaining arthrogryposis in Patient 2).
Description Author Affiliation: Wilson GN ( Departments of Pediatrics, Obstetrics and Gynecology, Texas Tech University Health Science Centers, Amarillo and Lubbock (Pediatrics), KinderGenome Pediatric Genetics, Dallas, Texas.)
ISSN 15524825
Educational Role Student ♦ Teacher
Age Range above 22 year
Educational Use Reading ♦ Research ♦ Self Learning
Interactivity Type Expositive
Education Level UG and PG
Learning Resource Type Article ♦ Case study
Publisher Date 2014-05-01
Publisher Place United States
e-ISSN 15524833
Journal American Journal of Medical Genetics Part A
Volume Number 164A
Issue Number 5


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Source: WHO-Global Index Medicus