| CASE REPORT |
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| Year : 2013 | Volume
: 5
| Issue : 3 | Page : 159-160 |
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Novel frameshift mutation in TRPS1 in a ukrainian patient with trichorhinophalangeal syndrome type I
Yuliya Ovcharenko1, Yuval Ramot2
1 Department of Dermatovenerology, Kharkiv Medical Academy of Postgraduate Education, Kharkiv, Ukraine, Israel
2 Department of Dermatology and and the Center for Genetic Diseases of the Skin and Hair, Hadassah-Hebrew University Medical Center, Jerusalem, Israel
Correspondence Address:
Yuval Ramot
Department of Dermatology, Hadassah- Hebrew University Medical Center, PO Box 12000, Jerusalem
Israel
 Source of Support: None, Conflict of Interest: None  | Check |
DOI: 10.4103/0974-7753.125620
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Trichorhinophalangeal syndrome (TRPS) type I is a rare autosomal dominant disorder, caused by mutations in the TRPS1 gene. It is characterized by slowly growing hair, craniofacial manifestations and orthopedic abnormalities. We present a 17-year-old female of Ukrainian origin who presented to the hair clinic with the complaint of hair loss. Further examination revealed the presence of craniofacial features characteristic for TRPS type I. Sequence analysis of the TRPS1 gene revealed a novel c. 2396_2397 insG frameshift mutation in exon 5, leading to a premature stop at codon 800. This case underlines the importance of the hair phenotype to the diagnosis of this syndrome and emphasizes the fact that when encountered with a severe alopecia in young age, the possibility of a congenital hair disease should always be borne in mind. |
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