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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: [email protected]
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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
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Copyright
© The Author(s), 2022. Published by Cambridge University Press

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