Andersen-Tawil syndrome: prospective cohort analysis and expansion of the phenotype.
Andersen-Tawil syndrome (ATS) is an autosomal dominant multisystem disorder characterized by developmental, cardiac, and neuromuscular abnormalities. Approximately 70% of patients have mutations in KCNJ2, resulting in dysfunction of the inward-rectifying potassium channel Kir2.1. Variable expression complicates the diagnosis of ATS, which in many cases, is not made until years after the first recognized symptom. To better define the distinctive clinical features of ATS and facilitate earlier diagnosis, we conducted a prospective, standardized evaluation of 10 subjects with confirmed KCNJ2 mutations. Detailed anthropometric, neurological, and cardiac evaluations were performed. Using this approach, we identified novel skeletal and dental findings and proposed additional diagnostic criteria for ATS dysmorphology.
Yoon
G
G
Department of Pediatrics, Division of Medical Genetics, University of California, San Francisco, California 94143-0748, USA. gyoon@itsa.ucsf.edu
Oberoi
S
S
Tristani-Firouzi
M
M
Etheridge
S P
SP
Quitania
L
L
Kramer
J H
JH
Miller
B L
BL
Fu
Y H
YH
Ptácek
L J
LJ
D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000235:genetics*; D000293:Adolescent; D000328:Adult; D050030:Andersen Syndrome / Q000235:genetics* / Q000473:pathology; D000886:Anthropometry; D001145:Arrhythmias, Cardiac / Q000235:genetics; D002648:Child; D015331:Cohort Studies; D005260:Female; D020022:Genetic Predisposition to Disease; D006801:Humans; D008297:Male; D009154:Mutation / Q000235:genetics*; D009422:Nervous System Diseases / Q000235:genetics; D010375:Pedigree; D010641:Phenotype; D024661:Potassium Channels, Inwardly Rectifying / Q000235:genetics*; D011446:Prospective Studies; D014071:Tooth Abnormalities / Q000235:genetics
C489457:KCNJ2 protein, human; D024661:Potassium Channels, Inwardly Rectifying