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Genetics Home Reference: your guide to understanding genetic conditions
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TRPS1

Reviewed February 2009

What is the official name of the TRPS1 gene?

The official name of this gene is “trichorhinophalangeal syndrome I.”

TRPS1 is the gene's official symbol. The TRPS1 gene is also known by other names, listed below.

What is the normal function of the TRPS1 gene?

The TRPS1 gene provides instructions for making a protein that regulates the activity of many other genes. This protein probably interacts with specific regions of DNA and with other proteins to turn genes on or off. Based on this role, the TRPS1 protein is called a transcription factor. Research suggests that the TRPS1 protein plays a role in regulating growth of bone and cartilage, a tough but flexible tissue that makes up much of the skeleton during early development.

How are changes in the TRPS1 gene related to health conditions?

Langer-Giedion syndrome - associated with the TRPS1 gene

The deletion or mutation of the TRPS1 gene and at least one other gene on chromosome 8 causes Langer-Giedion syndrome. These mutations cause no TRPS1 protein to be made, which disrupts normal bone growth. Researchers believe that the loss of functional TRPS1 protein contributes to short stature, cone-shaped ends of the long bones (epiphyses), and distinctive facial features in people with Langer-Giedion syndrome.

People with Langer-Giedion syndrome are always missing one functional copy of the TRPS1 gene in each cell; however, other neighboring genes may also be involved. The deletion or mutation of additional genes near the TRPS1 gene likely contributes to the varied features of this condition.

other disorders - caused by mutations in the TRPS1 gene

Mutations in the TRPS1 gene have been found to cause trichorhinophalangeal syndrome type I and trichorhinophalangeal syndrome type III. Trichorhinophalangeal syndrome type I is characterized by a distinctive facial appearance that includes sparse scalp hair; a rounded nose; a long, flat area between the nose and the upper lip (philtrum); and a thin upper lip. Individuals with this condition also have skeletal abnormalities such as cone-shaped epiphyses in their fingers and toes and short stature. People with trichorhinophalangeal syndrome type III have similar features as those with type I, but they are generally shorter in stature and have very short fingers (brachydactyly).

Where is the TRPS1 gene located?

Cytogenetic Location: 8q24.12

Molecular Location on chromosome 8: base pairs 115,408,495 to 115,669,027

The TRPS1 gene is located on the long (q) arm of chromosome 8 at position 24.12.

The TRPS1 gene is located on the long (q) arm of chromosome 8 at position 24.12.

More precisely, the TRPS1 gene is located from base pair 115,408,495 to base pair 115,669,027 on chromosome 8.

See How do geneticists indicate the location of a gene? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genelocation) in the Handbook.

Where can I find additional information about TRPS1?

You and your healthcare professional may find the following resources about TRPS1 helpful.

You may also be interested in these resources, which are designed for genetics professionals and researchers.

What other names do people use for the TRPS1 gene or gene products?

  • TRPS1_HUMAN
  • zinc finger transcription factor TRPS1

See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.

What glossary definitions help with understanding TRPS1?

brachydactyly ; cartilage ; cell ; chromosome ; deletion ; DNA ; gene ; mutation ; philtrum ; protein ; short stature ; stature ; syndrome ; tissue ; transcription ; transcription factor

You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://www.ghr.nlm.nih.gov/glossary).

References

  • 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(3):103-6. (http://www.ncbi.nlm.nih.gov/pubmed/11950061?dopt=Abstract)
  • Lüdecke HJ, Schaper J, Meinecke P, Momeni P, Gross S, von Holtum D, Hirche H, Abramowicz MJ, Albrecht B, Apacik C, Christen HJ, Claussen U, Devriendt K, Fastnacht E, Forderer A, Friedrich U, Goodship TH, Greiwe M, Hamm H, Hennekam RC, Hinkel GK, Hoeltzenbein M, Kayserili H, Majewski F, Mathieu M, McLeod R, Midro AT, Moog U, Nagai T, Niikawa N, Orstavik KH, Plöchl E, Seitz C, Schmidtke J, Tranebjaerg L, Tsukahara M, Wittwer B, Zabel B, Gillessen-Kaesbach G, Horsthemke B. Genotypic and phenotypic spectrum in tricho-rhino-phalangeal syndrome types I and III. Am J Hum Genet. 2001 Jan;68(1):81-91. Epub 2000 Dec 7. (http://www.ncbi.nlm.nih.gov/pubmed/11112658?dopt=Abstract)
  • Lüdecke HJ, Schmidt O, Nardmann J, von Holtum D, Meinecke P, Muenke M, Horsthemke B. Genes and chromosomal breakpoints in the Langer-Giedion syndrome region on human chromosome 8. Hum Genet. 1999 Dec;105(6):619-28. (http://www.ncbi.nlm.nih.gov/pubmed/10647898?dopt=Abstract)
  • Lüdecke HJ, Wagner MJ, Nardmann J, La Pillo B, Parrish JE, Willems PJ, Haan EA, Frydman M, Hamers GJ, Wells DE, et al. Molecular dissection of a contiguous gene syndrome: localization of the genes involved in the Langer-Giedion syndrome. Hum Mol Genet. 1995 Jan;4(1):31-6. (http://www.ncbi.nlm.nih.gov/pubmed/7711731?dopt=Abstract)
  • Momeni P, Glöckner G, Schmidt O, von Holtum D, Albrecht B, Gillessen-Kaesbach G, Hennekam R, Meinecke P, Zabel B, Rosenthal A, Horsthemke B, Lüdecke HJ. Mutations in a new gene, encoding a zinc-finger protein, cause tricho-rhino-phalangeal syndrome type I. Nat Genet. 2000 Jan;24(1):71-4. (http://www.ncbi.nlm.nih.gov/pubmed/10615131?dopt=Abstract)
  • NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/7227)
  • OMIM: ZINC FINGER TRANSCRIPTION FACTOR TRPS1 (http://omim.org/entry/604386)
  • Shanske AL, Patel A, Saukam S, Levy B, Lüdecke HJ. Clinical and molecular characterization of a patient with Langer-Giedion syndrome and mosaic del(8)(q22.3q24.13). Am J Med Genet A. 2008 Dec 15;146A(24):3211-6. doi: 10.1002/ajmg.a.32615. (http://www.ncbi.nlm.nih.gov/pubmed/19012352?dopt=Abstract)
  • Tariq M, Ahmad S, Ahmad W. A novel missense mutation in the TRPS1 gene underlies trichorhinophalangeal syndrome type III. Br J Dermatol. 2008 Aug;159(2):476-8. doi: 10.1111/j.1365-2133.2008.08658.x. Epub 2008 Jun 9. (http://www.ncbi.nlm.nih.gov/pubmed/18544079?dopt=Abstract)

 

The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.

 
Reviewed: February 2009
Published: April 17, 2014