p.Arg142Ter Variant Causing IFT52 Gene Mutation Resulting in Asphyxiating Thoracic Dystrophy-Juene Syndrome-A Rare Case Report

  • A C Mammen Sanjivani Multispeciality Hospital, Alacode P.O, Kollakadavu, Chenganur, Kerala
  • P V Binukuttan Sanjivani Multispeciality Hospital, Alacode P.O, Kollakadavu, Chenganur, Kerala
  • Reni G Varghese Sanjivani Multispeciality Hospital, Alacode P.O, Kollakadavu, Chenganur, Kerala
  • Salini Sasidharan Sanjivani Multispeciality Hospital, Alacode P.O, Kollakadavu, Chenganur, Kerala
Keywords: Juene Syndrome, pArg142Ter, Asphyxiating Thoraccic Dystrophy, Skeletal Anomalies

Abstract

Asphyxiating thoracic dystrophy or Juene syndrome is a rare condition of congenital dwarfism. Incidence is 1 per 100000-130000 live births1.A term neonate born in our hospital had respiratory distress soon after birth. On examination, the baby had polydactyly on all four limbs and small bell-shaped thorax. Xray revealed small metacarpals, short ribs, short iliac bones acetabular spurs.Mutation analysis revealed mutation in the gene coding IFT52 in Exon 6 with pArg142Ter as variant.Since this variant is reported less in literature,we report this case.

Author Biographies

A C Mammen, Sanjivani Multispeciality Hospital, Alacode P.O, Kollakadavu, Chenganur, Kerala

MD(Paediatrics), DAA(CMC Vellore), Fellowship in Neonatology (London, UK), Consultant. Department of Paediatrics and Neonatology

P V Binukuttan, Sanjivani Multispeciality Hospital, Alacode P.O, Kollakadavu, Chenganur, Kerala

MD(Paediatrics), Consultant, Department of Paediatrics and Neonatology

Reni G Varghese, Sanjivani Multispeciality Hospital, Alacode P.O, Kollakadavu, Chenganur, Kerala

DCH, Consultant, Department of Paediatrics and Neonatology

Salini Sasidharan, Sanjivani Multispeciality Hospital, Alacode P.O, Kollakadavu, Chenganur, Kerala

MD, Fellowship in Neonatology(IAP) ), Consultant, Department of Paediatrics and Neonatology

Published
2021-03-26
How to Cite
Mammen, A., Binukuttan, P., Varghese, R., & Sasidharan, S. (2021). p.Arg142Ter Variant Causing IFT52 Gene Mutation Resulting in Asphyxiating Thoracic Dystrophy-Juene Syndrome-A Rare Case Report. IMA Kerala Medical Journal, 14(1), 11-13. Retrieved from https://www.keralamedicaljournal.com/index.php/KMJ/article/view/600