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Genetics Home Reference: your guide to understanding genetic conditions
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DHH

Reviewed November 2008

What is the official name of the DHH gene?

The official name of this gene is “desert hedgehog.”

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

What is the normal function of the DHH gene?

The DHH gene provides instructions for making a member of the hedgehog protein family. Hedgehog proteins are important for early development in many parts of the body. The protein produced from the DHH gene is believed to be involved in male sexual development and in the formation of the perineurium, the protective membrane around each bundle of fibers within a nerve.

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

Swyer syndrome - caused by mutations in the DHH gene

DHH gene mutations have been identified in a small number of people with Swyer syndrome, also known as 46,XY complete or pure gonadal dysgenesis. Affected individuals have two mutated copies of the DHH gene in each cell.

People normally have 46 chromosomes in each cell. Two of the 46 chromosomes, known as X and Y, are called sex chromosomes because they help determine whether a person will develop male or female sex characteristics. Females typically have two X chromosomes (46,XX), and males ordinarily have one X chromosome and one Y chromosome (46,XY).

Mutations in the DHH gene in people with Swyer syndrome impair the process of male sexual differentiation, causing affected individuals to develop a female appearance despite having the chromosome pattern typical of males.

other disorders - caused by mutations in the DHH gene

DHH mutations have been identified in people with 46,XY disorder of sex development, also known as partial gonadal dysgenesis. These individuals have one mutated DHH gene in each cell. They may have external genitalia that do not look clearly male or clearly female (ambiguous genitalia) or other abnormalities of the genitals and reproductive organs. In addition to partial or complete gonadal dysgenesis, some people with DHH mutations also have nerve abnormalities. These abnormalities affect nerves connecting the brain and spinal cord to muscles and sensory cells that detect sensations such as touch, pain, heat, and sound (the peripheral nervous system). Affected individuals may experience weakness and loss of sensation in their extremities.

Where is the DHH gene located?

Cytogenetic Location: 12q13.1

Molecular Location on chromosome 12: base pairs 49,089,420 to 49,094,818

The DHH gene is located on the long (q) arm of chromosome 12 at position 13.1.

The DHH gene is located on the long (q) arm of chromosome 12 at position 13.1.

More precisely, the DHH gene is located from base pair 49,089,420 to base pair 49,094,818 on chromosome 12.

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 DHH?

You and your healthcare professional may find the following resources about DHH 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 DHH gene or gene products?

  • desert hedgehog homolog (Drosophila)
  • DHH_HUMAN
  • HHG-3
  • MGC35145

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 DHH?

cell ; chromosome ; differentiation ; dysgenesis ; gene ; genitalia ; genitals ; nervous system ; peripheral ; peripheral nervous system ; protein ; sensory cells ; sex chromosomes ; syndrome

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

References

  • Canto P, Söderlund D, Reyes E, Méndez JP. Mutations in the desert hedgehog (DHH) gene in patients with 46,XY complete pure gonadal dysgenesis. J Clin Endocrinol Metab. 2004 Sep;89(9):4480-3. Erratum in: J Clin Endocrinol Metab. 2004 Nov;89(11):5453. (http://www.ncbi.nlm.nih.gov/pubmed/15356051?dopt=Abstract)
  • Canto P, Vilchis F, Söderlund D, Reyes E, Méndez JP. A heterozygous mutation in the desert hedgehog gene in patients with mixed gonadal dysgenesis. Mol Hum Reprod. 2005 Nov;11(11):833-6. Epub 2006 Jan 3. (http://www.ncbi.nlm.nih.gov/pubmed/16390857?dopt=Abstract)
  • Gene Review: 46,XY Disorder of Sex Development and 46,XY Complete Gonadal Dysgenesis (http://www.ncbi.nlm.nih.gov/books/NBK1547/)
  • NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/50846)
  • Sugie K, Futamura N, Suzumura A, Tate G, Umehara F. Hereditary motor and sensory neuropathy with minifascicle formation in a patient with 46XY pure gonadal dysgenesis: a new clinical entity. Ann Neurol. 2002 Mar;51(3):385-8. (http://www.ncbi.nlm.nih.gov/pubmed/11891836?dopt=Abstract)
  • Umehara F, Tate G, Itoh K, Osame M. Minifascicular neuropathy: a new concept of the human disease caused by desert hedgehog gene mutation. Cell Mol Biol (Noisy-le-grand). 2002 Mar;48(2):187-9. Review. (http://www.ncbi.nlm.nih.gov/pubmed/11990454?dopt=Abstract)
  • Umehara F, Tate G, Itoh K, Osame M. Minifascicular neuropathy: a new concept of the human disease caused by desert hedgehog gene mutation. Cell Mol Biol (Noisy-le-grand). 2002 Mar;48(2):187-9. Review. (http://www.ncbi.nlm.nih.gov/pubmed/11990454?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: November 2008
Published: July 28, 2014