Hostname: page-component-cd9895bd7-dzt6s Total loading time: 0 Render date: 2024-12-28T16:15:05.314Z Has data issue: false hasContentIssue false
  • English
  • Français

Homozygous variants in the GDF1 gene related to recurrent right isomerism and complex CHD in two Indian families

Published online by Cambridge University Press:  30 March 2022

Mani Ram Krishna Open the ORCID record for Mani Ram Krishna [Opens in a new window]  and
Usha Nandhini Sennaiyan
Mani Ram Krishna*
Affiliation:
Tiny Hearts Fetal and Pediatric Cardiac Clinic, Dr R.K. Hospital for Women and Children, Thanjavur, India
Usha Nandhini Sennaiyan
Affiliation:
Tiny Hearts Fetal and Pediatric Cardiac Clinic, Dr R.K. Hospital for Women and Children, Thanjavur, India
*
Author for correspondence: M. R. Krishna, Tiny Hearts Fetal and Pediatric Cardiac Clinic, Dr R.K. Hospital for Women and Children, No 7, V.O.C. Nagar, Thanjavur, Tamil Nadu 613007, India. Tel: +919895384612. E-mail: mann_comp@hotmail.com
Get access Rights & Permissions [Opens in a new window]

Abstract

Disorders of laterality are often associated with complex CHD. There is considerable debate about the appropriate terminology to describe these conditions. As our understanding of the genetic basis of these disorders improves, it is likely that terminology will be dictated by the genetic aetiology. The genetic basis of laterality disorders in the Indian population has not been studied. We report two families with autosomal recessive inheritance of isomerism and homozygous variants in the GDF1 gene in affected family members.

Keywords

Right isomerismautosomal recessive inheritance of isomerismheterotaxy
Type
Brief Report
Information
Cardiology in the Young , Volume 32 , Issue 12 , December 2022 , pp. 2041 - 2043
Check for updates
Copyright
© The Author(s), 2022. Published by Cambridge University Press

Access options

Get access to the full version of this content by using one of the access options below. (Log in options will check for institutional or personal access. Content may require purchase if you do not have access.)

References

Jacobs, JP, Anderson, RH, Weinberg, PM, et al. The nomenclature, definition and classification of cardiac structures in the setting of heterotaxy. Cardiol Young 2007; 17: 1–28.Google ScholarPubMed
Houyel, L, Moreau de Bellaing, A, Bonnet, D. Heterotaxy: fluctuat nec mergitur. Cardiol Young 2021; 31: 1200–1201.CrossRefGoogle ScholarPubMed
Anderson, RH, Spicer, DE, Loomba, RS, Tretter, JT. Whither heterotaxy? Cardiol Young 2021; 31: 1197–1199.CrossRefGoogle ScholarPubMed
Belmont, JW, Mohapatra, B, Towbin, JA, Ware, SM. Molecular genetics of heterotaxy syndromes. Curr Opin Cardiol 2004; 19: 216–220.CrossRefGoogle ScholarPubMed
Cowan, JR, Tariq, M, Shaw, C, et al. Copy number variation as a genetic basis for heterotaxy and heterotaxy-spectrum congenital heart defects. Philos Trans R Soc Lond B Biol Sci 2016; 371: 20150406.CrossRefGoogle ScholarPubMed
Ware, SM, Peng, J, Zhu, L, et al. Identification and functional analysis of ZIC3 mutations in heterotaxy and related congenital heart defects. Am J Hum Genet 2004; 74: 93–105.CrossRefGoogle ScholarPubMed
Kaasinen, E, Aittomaki, K, Eronen, M, et al. Recessively inherited right atrial isomerism caused by mutations in growth/differentiation factor 1 (GDF1). Hum Mol Genet 2010; 19: 2747–2753.CrossRefGoogle ScholarPubMed
Brennan, J, Norris, DP, Robertson, EJ. Nodal activity in the node governs left-right asymmetry. Genes Dev 2002; 16: 2339–2344.CrossRefGoogle ScholarPubMed
Rankin, CT, Bunton, T, Lawler, AM, Lee, SJ. Regulation of left-right patterning in mice by growth/differentiation factor-1. Nat Genet 2000; 24: 262–265.CrossRefGoogle ScholarPubMed
Marek-Yagel, D, Bolkier, Y, Barel, O, et al. A founder truncating variant in GDF1 causes autosomal-recessive right isomerism and associated congenital heart defects in multiplex Arab kindreds. Am J Med Genet A 2020; 182: 987–993.CrossRefGoogle ScholarPubMed
Jin, SC, Homsy, J, Zaidi, S, et al. Contribution of rare inherited and de novo variants in 2,871 congenital heart disease probands. Nat Genet 2017; 49: 1593–1601.CrossRefGoogle ScholarPubMed
Li, AH, Hanchard, NA, Azamian, M, et al. Genetic architecture of laterality defects revealed by whole exome sequencing. Eur J Hum Genet 2019; 27: 563–573.CrossRefGoogle ScholarPubMed