Severe short rib thoracic dysplasia-16 associated with the c424C>T pathogenic variant in the Intra Flagellar Transport 52 (IFT52) gene

Abstract

There are only a few reported cases of SRTD-16 associated with IFT52 (Human Gene Mutation Database). Girisha KM et al (2016) reported the first human skeletal ciliopathy associated with a nonsense variant in IFT52, in a child from a consanguineous family. In their patient, the clinical features included short and narrow thorax with a protuberant abdomen, short limbs, post-axial polydactyly, brachydactyly, depressed nasal bridge, and low-set ears. However, unlike their patient, our patient had severe respiratory complications, and did not survive the neonatal period. Even though whole exome sequencing aids diagnosis and genetic counselling, the prognosis can vary, as disease expression is variable. Intensive neonatal management may be worthwhile given that survival beyond the neonatal period is possible.