Mutations in TRPS1 gene in trichorhinophalangeal syndrome type I in Asian patients

L. H. Chen, C. C. Ning, Sheau-Chiou Chao

Research output: Contribution to journalArticle

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Abstract

The trichorhinophalangeal syndromes (TRPSs) are rare hereditary diseases with mainly autosomal dominant inheritance. Three different forms sharing similar clinical features with heterogeneous mutations have been identified: type I (TRPS I), type II (TRPS II) and type III (TRPS III). These syndromes have characteristic facial abnormalities such as sparse and slow-growing scalp hair, laterally sparse eyebrows, bulbous pear-shaped nose, elongated and flat philtrum, thin upper lip, and protruding ears. Various skeletal abnormalities are also frequently noted: short stature, shortening of the phalanges and metacarpals, cone-shaped epiphyses and Perthes-like change of the hips. 1-4 The TRPS1 gene was first identified in 2000 and mapped to 8q24.1. 1 More than 50 mutations have been found in the gene to date. We here report mutation analysis of eight patients with the typical phenotype of TRPS I, revealing five novel mutations.

Original languageEnglish
Pages (from-to)416-419
Number of pages4
JournalBritish Journal of Dermatology
Volume163
Issue number2
DOIs
Publication statusPublished - 2010 Aug 1

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Mutation
Lip
Genes
Langer-Giedion Syndrome
Eyebrows
Pyrus
Inborn Genetic Diseases
Epiphyses
Metacarpal Bones
Rare Diseases
Scalp
Nose
Hair
Ear
Hip
Phenotype
Type I Trichorhinophalangeal Syndrome

All Science Journal Classification (ASJC) codes

  • Dermatology

Cite this

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abstract = "The trichorhinophalangeal syndromes (TRPSs) are rare hereditary diseases with mainly autosomal dominant inheritance. Three different forms sharing similar clinical features with heterogeneous mutations have been identified: type I (TRPS I), type II (TRPS II) and type III (TRPS III). These syndromes have characteristic facial abnormalities such as sparse and slow-growing scalp hair, laterally sparse eyebrows, bulbous pear-shaped nose, elongated and flat philtrum, thin upper lip, and protruding ears. Various skeletal abnormalities are also frequently noted: short stature, shortening of the phalanges and metacarpals, cone-shaped epiphyses and Perthes-like change of the hips. 1-4 The TRPS1 gene was first identified in 2000 and mapped to 8q24.1. 1 More than 50 mutations have been found in the gene to date. We here report mutation analysis of eight patients with the typical phenotype of TRPS I, revealing five novel mutations.",
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Mutations in TRPS1 gene in trichorhinophalangeal syndrome type I in Asian patients. / Chen, L. H.; Ning, C. C.; Chao, Sheau-Chiou.

In: British Journal of Dermatology, Vol. 163, No. 2, 01.08.2010, p. 416-419.

Research output: Contribution to journalArticle

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AB - The trichorhinophalangeal syndromes (TRPSs) are rare hereditary diseases with mainly autosomal dominant inheritance. Three different forms sharing similar clinical features with heterogeneous mutations have been identified: type I (TRPS I), type II (TRPS II) and type III (TRPS III). These syndromes have characteristic facial abnormalities such as sparse and slow-growing scalp hair, laterally sparse eyebrows, bulbous pear-shaped nose, elongated and flat philtrum, thin upper lip, and protruding ears. Various skeletal abnormalities are also frequently noted: short stature, shortening of the phalanges and metacarpals, cone-shaped epiphyses and Perthes-like change of the hips. 1-4 The TRPS1 gene was first identified in 2000 and mapped to 8q24.1. 1 More than 50 mutations have been found in the gene to date. We here report mutation analysis of eight patients with the typical phenotype of TRPS I, revealing five novel mutations.

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