p.ARG142Ter Variant Causing IFT52 Gene Mutation Resulting in Asphyxiating Thoracic Dystrophy (Juene Syndrome) � A Rare Case Report
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Date
2022-09
Journal Title
Journal ISSN
Volume Title
Publisher
Indian Medical Association
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. X-ray 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.
Description
Keywords
Juene syndrome, pArg142Ter, Asphyxiating thoraccic dystrophy, Skeletal anomalies
Citation
Mammen AC, PV Binukuttan, Varghese Reni G, Sasidharan Salini. p.ARG142Ter Variant Causing IFT52 Gene Mutation Resulting in Asphyxiating Thoracic Dystrophy (Juene Syndrome) � A Rare Case Report. Journal of The Indian Medical Association. 2022 Sept; 120(9): 51-52