Mutations in ZIC3 and ACVR2B are a common cause of heterotaxy and associated cardiovascular anomalies

• Published in: Cardiology in the young Vol. 22; no. 2; pp. 194 - 201
• Main Authors: Ma, Lijiang, Selamet Tierney, Elif Seda, Lee, Teresa, Lanzano, Patricia, Chung, Wendy K.
• Format: Journal Article
• Language: English
• Published: Cambridge, UK Cambridge University Press 01.04.2012
• Subjects: Activin Receptors, Type II - genetics; Cardiovascular Abnormalities - complications; Cardiovascular Abnormalities - epidemiology; Cardiovascular Abnormalities - genetics; Case-Control Studies; Female; Fetus - abnormalities; Genotype; Heterotaxy Syndrome - complications; Heterotaxy Syndrome - genetics; Homeodomain Proteins - genetics; Humans; Intercellular Signaling Peptides and Proteins - genetics; Left-Right Determination Factors - genetics; Male; Mutation; New York City - epidemiology; Pregnancy; Sequence Analysis; Transcription Factors - genetics; New York City; LEFTYA; CFC1; congenital cardiac defect; Left–right asymmetry

Heterotaxy syndrome is caused by left-right asymmetry disturbances and is associated with abnormal lateralisation of the abdominal and thoracic organs. The heart is frequently involved and the severity of the abnormality usually determines the outcome. We performed a direct sequence analysis of the...