Affiliation:
1. Lady Ridgeway Hospital for Children
2. University of Kelaniya
3. Teaching Hospital, Kalutara
Abstract
Abstract
Short rib thoracic dysplasia (SRTD) includes a group of autosomal recessively inherited skeletal ciliopathy with multiorgan involvement. It has distinctive but overlapping clinical phenotypes making the clinical diagnosis difficult. Characteristic radiological features support the clinical diagnosis. Mutations affecting 35 different genes have been identified, complicating the genetic diagnosis. We report an infant presented with respiratory distress at birth, who had features to suggest SRTD. The genetic diagnosis was made using whole-exome sequencing (WES) which revealed a mutation in the IFT52 gene, confirming the diagnosis of SRTD type 16. Same mutation was previously reported once, in an Indian child who survived infancy, suggesting phenotypic heterogeneity. This case supports the use of WES in establishing a genetic diagnosis but suggests that it is not possible to make genotype-phenotype correlations for this mutation.
Publisher
Research Square Platform LLC
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