A Frameshift Mutation in the TRPS1 Gene Showing a Mild Phenotype of Trichorhinophalangeal Syndrome Type 1

December 2018 in “ Journal of genetic medicine ”

Jin‐Mo Park, Yun Jeong Lee, Jin‐Sung Park

Studysummary In this case report, a 20-year-old male with tricho-rhino-phalangeal syndrome was found to have a de novo frameshift mutation in the TRPS1 gene, highlighting the challenges in diagnosing this rare disorder.

Automatically generated from the study's abstract, not written by a person, and not a review of the full paper. Not medical advice or a treatment recommendation. Read the original study, and consult a qualified healthcare professional before changing treatment. Full disclaimer ·

We don't know much about this study yet.

View this study on e-kjgm.org →

Discuss this study in the Community →

Similar Research

5 / 1000+ results

research Novel frameshift mutation in TRPS1 in a ukrainian patient with trichorhinophalangeal syndrome type I

January 2013 in “International Journal of Trichology”

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.

research A Case of Trichorhinophalangeal Syndrome Caused by a Novel Heterozygous Nonsense Mutation in the TRPS1 Gene

July 2025 in “Clinical Case Reports”

In this case report, a 17-year-old male with a specific TRPS1 gene mutation presented with sparse, soft hair, short thumbs and toes, misaligned teeth, and distinctive bone abnormalities in the fingers and toes as observed through X-ray analysis.

research A Case of Tricho-rhino-phalangeal Syndrome Caused by a Novel Heterozygous Nonsense Mutation in the TRPS1 Gene

November 2024

A new mutation in the TRPS1 gene caused Trichorhinophalangeal syndrome in a 17-year-old, highlighting the need for genetic testing.

research New case of trichorinophalangeal syndrome-like phenotype with a de novo t(2;8)(p16.1;q23.3) translocation which does not disrupt the TRPS1 gene

9 citations , May 2014 in “BMC medical genetics”

In this case report, the authors suggest that a novel enhancer element's translocation near the TRPS1 gene may contribute to the TRPS phenotype, expanding understanding of the syndrome's genetic basis.

research An early diagnosis of trichorhinophalangeal syndrome type 1: a case report and a review of literature

10 citations , November 2018 in “The Italian Journal of Pediatrics/Italian journal of pediatrics”

This case report identifies a mutation in the TRPS1 gene, leading to the diagnosis of trichorhinophalangeal syndrome type I in a young girl and her family, highlighting the importance of detailed clinical and family history for proper diagnosis.