Trichorhinophalangeal Syndrome Type III Associated with a Novel Missense Mutation in the TRPS1 Gene / 대한피부과학회지
Korean Journal of Dermatology
; : 494-498, 2018.
Article
en Ko
| WPRIM
| ID: wpr-717027
Biblioteca responsable:
WPRO
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.
Palabras clave
Texto completo:
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Índice:
WPRIM
Asunto principal:
Dedos del Pie
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Nariz
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Mutación Missense
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Parto
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Epífisis
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Braquidactilia
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Cabello
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Enfermedades Genéticas Congénitas
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Labio
Límite:
Child
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Female
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Humans
Idioma:
Ko
Revista:
Korean Journal of Dermatology
Año:
2018
Tipo del documento:
Article