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KMID : 0363220180560080494
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Korean Journal of Dermatology
2018 Volume.56 No. 8 p.494 ~ p.498
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Trichorhinophalangeal Syndrome Type III Associated with a Novel Missense Mutation in the TRPS1 Gene
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Roh Dong-Young
Kim Tae-Wook
Park Sung-Min
Lee Hyun-Joo
Jin Hyun-Ju
You Hyang-Suk
Shim Woo-Haing
Kim Gun-Wook
Kim Hoon-Soo
Kim Byung-Soo
Kim Moon-Bum
Ko Hyun-Chang
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Abstract
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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.
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KEYWORD
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Missense mutation, Trichorhinophalangeal syndrome, TRPS1 gene
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