Chromosome 15 Imprinting Disorders: Genetic Laboratory Methodology and Approaches

Frontiers in Pediatrics

article

Merlin G. Butler¹  Jessica Duis² 

[1] Division of Research and Genetics, Departments of Psychiatry and Behavioral Sciences and Pediatrics, University of Kansas Medical Center, United States;Section of Genetics and Inherited Metabolic Diseases, Department of Pediatrics, Children's Hospital Colorado, University of Colorado Anschutz Medical Campus, United States

关键词: Prader-Willi syndrome;    Angelman syndrome;    imprinting disorders;    genetic testing flowchart;    targeted genetic treatment approaches;    duplication 15q;    chromosome 15 disorders;   

DOI  :  10.3389/fped.2020.00154

学科分类：社会科学、人文和艺术（综合）

来源: Frontiers

【 摘 要 】

Chromosome 15 imprinting disorders include Prader-Willi (PWS) and Angelman (AS) syndromes, which are caused by absent expression from the paternal and maternal alleles in the chromosome 15q11. 2–q13 region, respectively. In addition, chromosome 15q duplication caused by the presence of at least one additional maternally derived copy of the 15q11.2–q13 region can lead to seizures, cognitive and behavioral problems. We focus on PWS and AS in the report, and expand the discussion of clinical care and description with genetic testing to include high-resolution studies to more specifically characterize the molecular mechanisms of disease. The importance of early diagnosis with the necessity for accurate molecular characterization through a step-wise algorithm is emphasized in an era of targeted therapeutic interventions. We present a flowchart to aid in ordering specialized genetic testing as several methods are available for patients presenting with features of PWS and/or AS.

【 授权许可】

CC BY