Trichorhinophalangeal syndrome type I--clinical, microscopic, and molecular features
| Autor: | Chil Hwan Oh, Jiehyun Jeon, Joo Ha Kim |
|---|---|
| Rok vydání: | 2014 |
| Předmět: |
Adult
Pathology medicine.medical_specialty Langer-Giedion Syndrome Genetic counseling DNA Mutational Analysis Dermatology Nose Short stature Fingers Exon medicine lcsh:Dermatology Humans Craniofacial business.industry Brachydactyly trichorhinophalangeal syndrome Phalanx lcsh:RL1-803 medicine.disease Autosomal dominant genetic disorder DNA-Binding Proteins Repressor Proteins Infectious Diseases Mutation (genetic algorithm) Trichorhinophalangeal Syndrome Type I TRPS 1 gene Female medicine.symptom business Hair Diseases Transcription Factors |
| Zdroj: | Indian Journal of Dermatology, Venereology and Leprology, Vol 80, Iss 1, Pp 54-57 (2014) |
| ISSN: | 0973-3922 |
| Popis: | Trichorhinophalangeal syndrome type I (TRPS I) is an autosomal dominant malformation syndrome characterized by a triad of hair alteration, craniofacial and skeletal abnormalities. TRPS1 gene was first identified in 2000 and mapped on chromosome 8q23.3. A 39-year-old female patient with short stature (149 cm) visited for fine sparse and slow-growing hair with receded medio-occipital hairline of roughly triangular shape since infancy. A typical pear-shaped nose and elongated philtrum were noticeable. In addition, she reported deviation of middle phalanges, bilateral coxa varus in both hips and brachydactyly on bilateral fourth digits. Mutation analysis identified a transition of cytosine to thymine at position 1630 (exon 4), which results in amino acid change R544X and a premature stop of translation. There is no established treatment. But through careful evaluation of suspicious cases to identify potential mutation carriers, the patient can receive information about the disease and genetic counseling. |
| Databáze: | OpenAIRE |
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