Suggestive linkage of situs inversus and other left-right axis anomalies to chromosome 6p

• Published in: Journal of medical genetics Vol. 38; no. 3; pp. 182 - 185
• Main Authors: VITALE, E, BRANCOLINI, V, DE RIENZO, A, BIRD, L, ALLADA, V, SKLANSKY, M, CHAE, C U, FERRERO, G B, WEBER, J, DEVOTO, M, CASEY, B
• Format: Journal Article
• Language: English
• Published: London BMJ 01.03.2001; BMJ Publishing Group LTD; BMJ Group
• Subjects: Biological and medical sciences; Body Patterning - genetics; Chromosomes; Chromosomes, Human, Pair 6 - genetics; Complex syndromes; Congenital Abnormalities - genetics; Congenital Abnormalities - pathology; Defects; Deoxyribonucleic acid; DNA; Family Health; Female; Genes; Genetic Linkage; Genetics; Genomes; Haplotypes; Heart; Heart Defects, Congenital - genetics; Heart Defects, Congenital - pathology; Humans; Letters to the Editor; Lod Score; Male; Medical genetics; Medical sciences; Microsatellite Repeats; Mortality; Mutation; Pedigree; Situs Inversus - genetics; Situs Inversus - pathology; Genetic mapping; Human; Short arm; Linkage; Family study; Pathogenesis; Situs inversus; Chromosome C6; Congenital disease; Genetic determinism; Genetic disease; Phenotype; Gene; Autosomal character; Gene penetrance; Dominant character
• ISSN: 0022-2593; 1468-6244; 1468-6244
• DOI: 10.1136/jmg.38.3.182

1 Given that the diagnosis is based on the discordance of the left-right (LR) sidedness between the abdominal viscera and atria, 2 heterotaxy describes a group of malformations arising from the abnormal development of LR asymmetry. 3 In familial cases one can find subjects with complete, mirror image reversal of normal LR anatomy (situs inversus), and others who manifest the hallmark visceroatrial discordance as well as other laterality malformations (sometimes collectively called situs ambiguus). [...]other family members with normal LR anatomy (situs solitus) are obligate disease gene carriers by virtue of their pedigree position. The malformation observed in III.9, ventricular inversion in combination with transposition of the great arteries, is usually classified with heterotaxy under the common aetiology of "abnormal looping" defects. [...]III.9 was scored as affected in the linkage analysis, while V.2, who showed hypoplastic left heart syndrome (HLHS), which has not been linked embryologically to the cardiac looping defects, was scored as having an unknown disease status.