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PKD1L1-associated heterotaxy

Friday 21 November 2003

lateralization defects, anomalies of body asymmetry, defects in situs orientation; laterality defects;situs anomalies

Disruption of the establishment of left-right (L-R) asymmetry leads to situs anomalies ranging from situs inversus totalis (SIT) to situs ambiguus (heterotaxy ).

The genetic causes of laterality defects in humans are highly heterogeneous.

The identification of bi-allelic PKD1L1 mutations recapitulates previous findings regarding phenotypic consequences of loss of function of the orthologous genes in mice and medaka fish and further expands our understanding of genetic contributions to laterality defects ( heterotaxy ) in humans.

See also

- situs inversus

  • situs ambigus (incomplete)
  • situs inversus or situs inversus totalis (complete)
  • situs inversus viscerum (visceral heterotaxy or visceral heterotaxia )

- anomalies of body symmetry

References

- Bi-allelic Mutations in PKD1L1 Are Associated with Laterality Defects in Humans.
Vetrini F, D’Alessandro LC, Akdemir ZC, Braxton A, Azamian MS, Eldomery MK, Miller K, Kois C, Sack V, Shur N, Rijhsinghani A, Chandarana J, Ding Y, Holtzman J, Jhangiani SN, Muzny DM, Gibbs RA, Eng CM, Hanchard NA, Harel T, Rosenfeld JA, Belmont JW, Lupski JR, Yang Y. Am J Hum Genet. 2016 Oct 6;99(4):886-893. doi : 10.1016/j.ajhg.2016.07.011 PMID: 27616478

- Casey B. Two rights make a wrong: human left-right malformations. Hum Mol Genet. 1998;7(10):1565-71. PMID: 9735377

- Ibanez-Tallon I, Heintz N, Omran H. To beat or not to beat : roles of cilia in development and disease. Hum Mol Genet. 2003 Apr 2 ;12(Suppl 1) :R27-35. PMID : 12668594

- El Zein L, Omran H, Bouvagnet P. Lateralization defects and ciliary dyskinesia : lessons from algae. Trends Genet. 2003 Mar ;19(3):162-7. PMID : 12615011

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