|
 |
| CASE REPORT |
|
| Year : 2013 | Volume
: 5
| Issue : 3 | Page : 159-160 |
|
|
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
| Date of Web Publication | 22-Jan-2014 |
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
 Abstract | | |
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. Keywords: Alopecia, trichorhinophalangeal syndrome, TRPS1
How to cite this article:
Ovcharenko Y, Ramot Y. Novel frameshift mutation in TRPS1 in a ukrainian patient with trichorhinophalangeal syndrome type I. Int J Trichol 2013;5:159-60 |
| Introduction | |  |
Trichorhinophalangeal syndrome (TRPS) type I (TRPSI, Online Mendelian Inheritance in Man [OMIM# 190350]) is a rare autosomal dominant disorder, which was first described in 1956 by Klingmuller. [1] It is characterized by slowly growing hair, craniofacial manifestations and orthopedic abnormalities. [2] The culprit gene is TRPS1, localized on chromosome 8q24, which encodes a zinc finger transcriptional repressor involved in hair development and chondrocyte modulation. [3] Based on the severity of the clinical manifestations, two additional subtypes have been described: TRPS type II (OMIM# 150230) and TRPS type III (OMIM 190351). [4] TRPS type III is also caused by mutations in TRPS1, but the allelic correlation between TRPS type III and TRPS type I is still unknown. [5] We present a TRPS type I patient of Ukrainian origin with a novel TRPS1 mutation.
| Case Report | | |
The present case report is about a 17-year-old female patient, born to a non-consanguineous family of a Ukrainian origin, who presented with short and sparse scalp hair, most pronounced in the temporal area [Figure 1]a and in a unique triangular shape in the mid occipital scalp [Figure 1]b. Additional findings included beaked nose with a long philtrum and an allergic crease [Figure 1]c, widened proximal interphalangeal joints [Figure 1]d, short toes [Figure 1]e and onycholysis of finger- and toenails. 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 [Figure 1]f. | Figure 1: (a-e) Clinical manifestations of the patient, demonstrating hair loss, finger and toe malformation and facial deformities (f) Sequence analysis of TRPS1 showing the heterozygous mutation 2396_2397 insG
Click here to view |
| Discussion | | |
Here we describe a case of TRPS type I, who presented to our hair clinic with the complaint of hair loss. Nevertheless, detailed examination of facial features and joints uncovered the diagnosis of TRPS type I, emphasizing the importance of the hair specialist in diagnosing this syndrome. This case underlines the fact that whenever the dermatologist is encountered with a severe alopecia in young age, the possibility of a congenital hair disease should always be borne in mind. This is especially true in TRPS, where androgenetic alopecia type of hair loss has been described. [6]
Interestingly, the patient showed a unique pattern of scalp hair loss, manifesting as triangular loss of hair in the mid occipital scalp, which was previously described in this syndrome [7] and might have been overlooked in additional patients. Our patient was diagnosed in a relatively advanced age, suggesting that the prevalence of TRPS type I is probably still underestimated and should be considered by dermatologists when examining new patients.
To the best of our knowledge, the c. 2396_2397 insG frameshift mutation was not previously reported. Therefore, this report adds one more mutation to the growing list of mutations reported in this syndrome. Considering the fact that the correlation between genotype and phenotype of TRPSI is still obscure, [2] the report of additional mutations can enhance our knowledge on this complicated and severe genetic disease.
| Acknowledgment | | |
The authors would like to thank Ms. Sofia Babay for excellent technical assistance.
| References | | |
| 1. | Klingmuller G. Peculiar constitutional anomalies in 2 sisters and their relations to recent findings in evolutional pathology. Hautarzt 1956;7:105-13. 
[PUBMED] |
| 2. | Lüdecke HJ, Schaper J, Meinecke P, Momeni P, Gross S, von Holtum D, et al. Genotypic and phenotypic spectrum in tricho-rhino-phalangeal syndrome types I and III. Am J Hum Genet 2001;68:81-91.
|
| 3. | Momeni P, Glöckner G, Schmidt O, von Holtum D, Albrecht B, Gillessen-Kaesbach G, et al. Mutations in a new gene, encoding a zinc-finger protein, cause tricho-rhino-phalangeal syndrome type I. Nat Genet 2000;24:71-4.
|
| 4. | Hilton MJ, Sawyer JM, Gutiérrez L, Hogart A, Kung TC, Wells DE. Analysis of novel and recurrent mutations responsible for the tricho-rhino-phalangeal syndromes. J Hum Genet 2002;47:103-6.
|
| 5. | Kobayashi H, Hino M, Shimodahira M, Iwakura T, Ishihara T, Ikekubo K, et al. Missense mutation of TRPS1 in a family of tricho-rhino-phalangeal syndrome type III. Am J Med Genet 2002;107:26-9.
[PUBMED] |
| 6. | Böni R, Böni RH, Tsambaos D, Spycher MA, Trüeb RM. Trichorhinophalangeal syndrome. Dermatology 1995;190:152-5.
|
| 7. | Seitz CS, Lüdecke HJ, Wagner N, Bröcker EB, Hamm H. Trichorhinophalangeal syndrome type I: Clinical and molecular characterization of 3 members of a family and 1 sporadic case. Arch Dermatol 2001;137:1437-42.
|
[Figure 1]
|
