Nosology and classification of genetic skeletal disorders: 2015 revision
Abstract
The purpose of the nosology is to serve as a “master” list of the genetic disorders of the skeleton to facilitate diagnosis and to help delineate variant or newly recognized conditions. This is the 9th edition of the nosology and in comparison with its predecessor there are fewer conditions but many new genes. In previous editions, diagnoses that were phenotypically indistinguishable but genetically heterogenous were listed separately but we felt this was an unnecessary distinction. Thus the overall number of disorders has decreased from 456 to 436 but the number of groups has increased to 42 and the number of genes to 364. The nosology may become increasingly important today and tomorrow in the era of big data when the question for the geneticist is often whether a mutation identified by next generation sequencing technology in a particular gene can explain the clinical and radiological phenotype of their patient. This can be particularly difficult to answer conclusively in the prenatal setting. Personalized medicine emphasizes the importance of tailoring diagnosis and therapy to the individual but for our patients with rare skeletal disorders, the importance of tapping into a resource where genetic data can be centralized and made available should not be forgotten or underestimated. The nosology can also serve as a reference for the creation of locus‐specific databases that are expected to help in delineating genotype–phenotype correlations and to harbor the information that will be gained by combining clinical observations and next generation sequencing results. © 2015 Wiley Periodicals, Inc.
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Mutations in approximately 400 different genes are currently known to cause congenital skeletal diseases.
“Mutations in approximately 400 different genes are currently known to cause congenital skeletal diseases9”
From Gain-of-function mutation of microRNA-140 in human skeletal dysplasia (2019) · cites this paper as [9]
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- Authors
- Bonafe, L., Cormier‐Daire, V., Hall, C., Lachman, R., Mortier, G., Mundlos, S., Nishimura, G., Sangiorgi, L., Savarirayan, R., Sillence, D., Spranger, J., Superti‐Furga, A., Warman, M., & Unger, S.
- Affiliations
- Centre des Maladies Moléculaires CHUV University of Lausanne Switzerland
- IMAGINE Institute Hôpital Necker Enfants Malade Paris France
- Great Ormond Street Hospital (GB)
- University of California, Los Angeles (US)
- University of Antwerp (BE)
- Berlin-Brandenburger Centrum für Regenerative Therapien (DE)
- Tokyo Metropolitan Children's Medical Center (JP)
- Istituto Ortopedico Rizzoli (IT)
- The University of Melbourne (AU)
- The University of Sydney (AU)
- Sinzheim Germany
- Centre Hospitalier Universitaire Vaudois (CH)
- Boston Children's Hospital (US)
- Corresponding author
- Unger, Sheila
- ORCID
- Venue
- American Journal of Medical Genetics Part A
- Publisher
- Wiley
- Published
- 2015-09-23
- Volume
- 167
- Issue
- 12
- Pages
- 2869-2892
- ISSN
- 1552-4825 (ISSN-L)
- 1552-4833
- OpenAlex
- W2915107991
- Cited by
- 569
- References
- 0
- Citations by year
- 2026: 13 · 2025: 11 · 2024: 23 · 2023: 25 · 2022: 28 · 2021: 56 · 2020: 64 · 2019: 83 · 2018: 103 · 2017: 87 · 2016: 65 · 2015: 8 · 2012: 1
- FWCI
- 59.90
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- American Journal of Medical Genetics Part A (publishedVersion)
- PubMed (publishedVersion)
- IRIS (submittedVersion)
- SERVAL (Université de Lausanne) (submittedVersion)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Connective tissue disorders research
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomics and Rare Diseases
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Dermatological and Skeletal Disorders
- Keywords
- genetic skeletal disorders, disease classification, rare genetic disorders, genetic heterogeneity, genotype-phenotype correlation, next-generation sequencing, prenatal diagnosis, personalized medicine, locus-specific databases
- MeSH terms
- Bone Diseases, Humans, Genetic Diseases, Inborn
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