Frequency
The prevalence of gnathodiaphyseal dysplasia is unknown, but it is thought to be a rare disorder. A few affected individuals and families have been described in the medical literature.
Causes
Gnathodiaphyseal dysplasia is caused by mutations in the ANO5 gene, which provides instructions for making a protein called anoctamin-5. While the specific function of this protein is not well understood, it belongs to a family of proteins, called anoctamins, that act as chloride channels. Studies suggest that most anoctamin channels are turned on (activated) in the presence of positively charged calcium atoms (calcium ions); these channels are known as calcium-activated chloride channels. The mechanism for this calcium activation is unclear.
The ANO5 gene mutations that have been identified in people with gnathodiaphyseal dysplasia change single protein building blocks (amino acids) in the anoctamin-5 protein. It is unclear how these protein changes lead to the fragile bones, jaw problems, and other skeletal abnormalities that occur in gnathodiaphyseal dysplasia. Researchers suggest that the mutations may affect the way cells process calcium, an important mineral in bone development and growth.
Inheritance
This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder.
Other Names for This Condition
- GDD
- Gnathodiaphyseal sclerosis
- Levin syndrome 2
- Osteogenesis imperfecta with unusual skeletal lesions
- Osteogenesis imperfecta, Levin type
Additional Information & Resources
Genetic Testing Information
Genetic and Rare Diseases Information Center
Patient Support and Advocacy Resources
Catalog of Genes and Diseases from OMIM
Scientific Articles on PubMed
References
- Ahluwalia J, Ly JQ, Norman E, Costello RF Jr, Beall DP. Gnathodiaphyseal dysplasia. Clin Imaging. 2007 Jan-Feb;31(1):67-9. doi: 10.1016/j.clinimag.2006.07.003. Citation on PubMed
- Herman TE, Siegel MJ, Sargar K. Gnathodiaphyseal dysplasia. J Perinatol. 2014 May;34(5):412-4. doi: 10.1038/jp.2013.178. No abstract available. Citation on PubMed
- Marconi C, Brunamonti Binello P, Badiali G, Caci E, Cusano R, Garibaldi J, Pippucci T, Merlini A, Marchetti C, Rhoden KJ, Galietta LJ, Lalatta F, Balbi P, Seri M. A novel missense mutation in ANO5/TMEM16E is causative for gnathodiaphyseal dyplasia in a large Italian pedigree. Eur J Hum Genet. 2013 Jun;21(6):613-9. doi: 10.1038/ejhg.2012.224. Epub 2012 Oct 10. Citation on PubMed or Free article on PubMed Central
- Riminucci M, Collins MT, Corsi A, Boyde A, Murphey MD, Wientroub S, Kuznetsov SA, Cherman N, Robey PG, Bianco P. Gnathodiaphyseal dysplasia: a syndrome of fibro-osseous lesions of jawbones, bone fragility, and long bone bowing. J Bone Miner Res. 2001 Sep;16(9):1710-8. doi: 10.1359/jbmr.2001.16.9.1710. Citation on PubMed
- Tsutsumi S, Kamata N, Vokes TJ, Maruoka Y, Nakakuki K, Enomoto S, Omura K, Amagasa T, Nagayama M, Saito-Ohara F, Inazawa J, Moritani M, Yamaoka T, Inoue H, Itakura M. The novel gene encoding a putative transmembrane protein is mutated in gnathodiaphyseal dysplasia (GDD). Am J Hum Genet. 2004 Jun;74(6):1255-61. doi: 10.1086/421527. Epub 2004 Apr 29. Citation on PubMed or Free article on PubMed Central
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