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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*
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

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.

Type
Brief Report
Copyright
© The Author(s), 2022. Published by Cambridge University Press

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