Trichorhinophalangeal Syndrome Type III Associated with a Novel Missense Mutation in the TRPS1 Gene.
- Author:
Dongyoung ROH
1
;
Tae Wook KIM
;
Sung Min PARK
;
Hyun Joo LEE
;
Hyunju JIN
;
Hyang Suk YOU
;
Woo Haing SHIM
;
Gun Wook KIM
;
Hoon Soo KIM
;
Byung Soo KIM
;
Moon Bum KIM
;
Hyun Chang KO
Author Information
1. Department of Dermatology, School of Medicine, Pusan National University, Busan, Korea. hcko@pusan.ac.kr
- Publication Type:Case Report
- Keywords:
Missense mutation;
Trichorhinophalangeal syndrome;
TRPS1 gene
- MeSH:
Brachydactyly;
Child;
Epiphyses;
Female;
Genetic Diseases, Inborn;
Hair;
Humans;
Lip;
Mutation, Missense*;
Nose;
Parturition;
Toes
- From:Korean Journal of Dermatology
2018;56(8):494-498
- CountryRepublic of Korea
- Language:Korean
-
Abstract:
Trichorhinophalangeal syndrome (TRPS) is a rare autosomal dominant hereditary disease caused by mutations in the TRPS1 or the EXT1 gene. Patients show 3 different forms (TRPS I-TRPS III) of this condition sharing similar clinical features including sparse hair, a bulbous nose, an elongated philtrum, short stature, and shortened phalanges. A 10-year-old girl presented with sparse hair and thin hair shafts since birth. She also showed a bulbous nose, an elongated philtrum, brachydactyly of the great toes, and a short stature. Radiological examination showed cone-shaped epiphyses and shortened phalanges. Genetic analysis revealed a novel missense mutation c.2759G>C (p.Trp920Ser) in the TRPS1 gene. We diagnosed this patient with TRPS type III. To our knowledge, only 3 reports have described a genetically analyzed TRPS1 gene mutation among the 11 reported cases of TRPS in the Korean literature. Furthermore, we identified a novel missense mutation in the TRPS1 gene.
