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

E Cailing; Mohammad Boshir Ahmed; Yu Wang; Jing Wang; Shixing Wu; Zhiqi Meng

doi:10.1002/ccr3.70695

July 31, 2025Clinical Case ReportsOpen Access

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

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Key Points

Patient exhibits clinical features of trichorhinophalangeal syndrome, including sparse hair and short digits.
The identified c.2065C>T mutation in TRPS1 gene suggests a crucial role in the development of the syndrome.
X-ray findings corroborate phenotypic symptoms with short distal thumb phalanges and other skeletal anomalies.
Identification of this mutation lays groundwork for further research into genetic causes and patient management.

Implication

Case study reveals a heterozygous nonsense mutation in TRPS1 gene, suggesting implications for diagnosis and treatment.

Abstract

A 17-year-old male patient with a c.2065C>T heterozygous nonsense mutation in the TRPS1 gene has sparse, soft hair; short thumbs and toes; misaligned teeth; and X-ray findings of short distal thumb phalanges, depressed middle finger phalanges bases, and short toe proximal phalanges.

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Cite This Study

Cailing et al. (2025) studied this question.

synapsesocial.com/papers/68c1a5ff54b1d3bfb60e00ec https://doi.org/10.1002/ccr3.70695

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

Key Points

Implication

Abstract

Discussion

Cite This Study

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

Key Points

Implication

Abstract

Discussion

Cite This Study

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