Novel Frameshift Mutation in TRPS1 in a Ukrainian Patient with Trichorhinophalangeal Syndrome Type I
January 2013
in “
International Journal of Trichology
”
Studysummary This case report highlights the discovery of a novel TRPS1 gene mutation in a 17-year-old with TRPS type I, underscoring the diagnostic importance of hair symptoms in congenital hair diseases.
Our plain-language summary. Not medical advice or a treatment recommendation. Consult a qualified healthcare professional before changing treatment. Full disclaimer
In 2013, a case report described a 17-year-old Ukrainian female patient with Trichorhinophalangeal syndrome (TRPS) type I, a rare autosomal dominant disorder characterized by hair loss, craniofacial abnormalities, and orthopedic issues. The patient presented with hair loss and was found to have craniofacial features typical of TRPS type I. Genetic testing revealed a novel frameshift mutation in the TRPS1 gene (c. 2396_2397 insG in exon 5), which resulted in a premature stop codon at position 800. This mutation had not been previously reported, adding to the known mutations associated with this syndrome. The case emphasized the importance of considering congenital hair diseases in young patients with severe alopecia and highlighted the role of hair specialists in diagnosing conditions like TRPS.
