AUTHOR=Huang Qi , Jiang Cheng , Sun Jiazhong , Xue Junli , Zhang Victor Wei 
  
TITLE=Case report: A novel mutation in TRPS1 identified in a Chinese family with tricho-rhino-phalangeal syndrome I: A therapeutic challenge
  
JOURNAL=Frontiers in Pediatrics
  
VOLUME=Volume 10 - 2022
  
YEAR=2022
  
URL=https://www.frontiersin.org/journals/pediatrics/articles/10.3389/fped.2022.990230
  
DOI=10.3389/fped.2022.990230
  
ISSN=2296-2360
  
ABSTRACT=Tricho-rhino-phalangeal syndrome (TRPS) is a rare autosomal dominant malformation caused by mutations involving the TRPS1 gene. Patients with TRPS exhibit distinctive craniofacial and skeletal abnormalities. This report presents three intra-familial cases with TRPS1 gene mutations that showed the characteristic features of TRPS. A 13-year-old boy was admitted to Department of Endocrinology for the evaluation of short stature. Physical examination revealed that the boy had thin sparse hair, pear-shaped nose, protruding ears, small jaw and brachydactyly. A survey of his family history indicated that the boy’s sister and mother shared the same clinical features. Radiological techniques demonstrated a different degree of skeletal abnormalities in these siblings. Next-generation sequencing and quantitative PCR were performed and showed a novel deletion mutation in exons 3-5 in the three familial cases, confirming the diagnosis of TRPS I. The healthy father did not carry the deletion mutation. Currently, there was no specific therapy for TRPS I; however, genetic consultation may be useful for family planning.