Heterotaxy

Definition:

Heterotaxy, or situs ambiguus, is an abnormal arrangement of the thoracic and abdominal viscera. The phenotype with mirror-image reversed left-right axis is called situs inversus, while partial alterations in the left-right organization is referred to as heterotaxy. Heterotaxy is associated with perturbation of nodal signaling during embryogenesis.

References:

[1]. B Casey, et al. Genetics of human situs abnormalities. Am J Med Genet. 2001 Jul 15;101(4):356-8. [Content Brief]

[2]. Bhagyalaxmi Mohapatra, et al. Identification and functional characterization of NODAL rare variants in heterotaxy and isolated cardiovascular malformations. Hum Mol Genet. 2009 Mar 1;18(5):861-71. [Content Brief]

[3]. Eevi Kaasinen, et al. Recessively inherited right atrial isomerism caused by mutations in growth/differentiation factor 1 (GDF1). Hum Mol Genet. 2010 Jul 15;19(14):2747-53. [Content Brief]

[4]. Emmanuelle Szenker-Ravi, et al. Discovery of a genetic module essential for assigning left-right asymmetry in humans and ancestral vertebrates. Nat Genet. 2022 Jan;54(1):62-72. [Content Brief]

[5]. Francesco Vetrini, et al. Bi-allelic Mutations in PKD1L1 Are Associated with Laterality Defects in Humans. Am J Hum Genet. 2016 Oct 6;99(4):886-893. [Content Brief]

[6]. Gerard W Dougherty, et al. CFAP45 deficiency causes situs abnormalities and asthenospermia by disrupting an axonemal adenine nucleotide homeostasis module. Nat Commun. 2020 Nov 2;11(1):5520. [Content Brief]

[7]. Joseph S Leslie, et al. MNS1 variant associated with situs inversus and male infertility. Eur J Hum Genet. 2020 Jan;28(1):50-55. [Content Brief]

[8]. M Gebbia, et al. X-linked situs abnormalities result from mutations in ZIC3. Nat Genet. 1997 Nov;17(3):305-8. [Content Brief]

[9]. Mardi J Sutherland, et al. Disorders of left-right asymmetry: heterotaxy and situs inversus. Am J Med Genet C Semin Med Genet. 2009 Nov 15;151C(4):307-17. [Content Brief]

[10]. R N Bamford, et al. Loss-of-function mutations in the EGF-CFC gene CFC1 are associated with human left-right laterality defects. Nat Genet. 2000 Nov;26(3):365-9. [Content Brief]

[11]. Zeev Perles, et al. A human laterality disorder associated with recessive CCDC11 mutation. J Med Genet. 2012 Jun;49(6):386-90. [Content Brief]

[12]. Zeev Perles, et al. A human laterality disorder caused by a homozygous deleterious mutation in MMP21. J Med Genet. 2015 Dec;52(12):840-7. [Content Brief]

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