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

Abstract

Asphyxiating thoracic dystrophy or Juene syndrome is a rare condition of congenital dwarfism. Incidence is 1 per 100000-130000 live births 1. 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 pArg 142 Ter as variant. Since this variant is reported less in literature, we report this case.