X-linked transposition of the great arteries and incomplete penetrance among males with a nonsense mutation in ZIC3

• Published in: European journal of human genetics : EJHG Vol. 8; no. 9; pp. 704 - 708
• Main Authors: Mégarbané, A, Salem, N, Stephan, E, Ashoush, R, Lenoir, D, Delague, V, Kassab, R, Loiselet, J, Bouvagnet, P
• Format: Journal Article
• Language: English
• Published: England Nature Publishing Group 01.09.2000
• Subjects: Alternative Splicing - genetics; Amino Acid Sequence; Arteries; Birth weight; Chromosomes; Codon, Nonsense - genetics; Congenital diseases; Coronary vessels; Defects; DNA Mutational Analysis; Genes; Genetic Linkage; Genetics; Heart; Homeodomain Proteins - genetics; Humans; Infant; Infant, Newborn; Male; Molecular Sequence Data; Mutation; Nonsense mutation; Patients; Pedigree; Penetrance; Point Mutation; Pulmonary arteries; Sex Factors; Transcription Factors - deficiency; Transcription Factors - genetics; Transposition; Transposition of Great Vessels - diagnosis; Transposition of Great Vessels - genetics; Transposition of Great Vessels - mortality; Ultrasonic imaging; Veins & arteries; X Chromosome - genetics; Zinc Fingers - genetics; France; Beirut Lebanon

We report on a Lebanese family in which two maternal cousins suffered and died very early in life from cardiac malformations. Both presented with a transposition of the great arteries associated with one or several other cardiac defects. Various minor midline defects were also observed, but there we...