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

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...

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Published inEuropean 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
LanguageEnglish
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
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Summary: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 were no situs abnormalities other than a persistent left superior vena cava in one. A maternal uncle of these two babies was born cyanotic and died on the third post-natal day. Analysis of the ZIC3 gene, revealed the presence of a mutation in the second exon leading to a truncation of the protein. Surprisingly, another maternal uncle of the two affected cousins also had the mutation but was not clinically affected. To our knowledge, this is the first instance of incomplete penetrance in a male for a mutation in a chromosome X gene.
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ISSN:1018-4813
1476-5438
DOI:10.1038/sj.ejhg.5200526