Nosology and classification of genetic skeletal disorders: 2015 revision

doi:10.1002/ajmg.a.37365

. 2015 Dec;167A(12):2869-92.

doi: 10.1002/ajmg.a.37365. Epub 2015 Sep 23.

Nosology and classification of genetic skeletal disorders: 2015 revision

Luisa Bonafe¹, Valerie Cormier-Daire², Christine Hall³, Ralph Lachman⁴, Geert Mortier⁵, Stefan Mundlos^{6

7

8}, Gen Nishimura⁹, Luca Sangiorgi¹⁰, Ravi Savarirayan¹¹, David Sillence¹², Jürgen Spranger¹³, Andrea Superti-Furga¹⁴, Matthew Warman¹⁵, Sheila Unger¹⁶

Affiliations

¹ Centre des Maladies Moléculaires CHUV, University of Lausanne, Switzerland.
² IMAGINE Institute, Hôpital Necker Enfants Malade, Paris, France.
³ Department of Radiology, Great Ormond Street Hospital, London, UK.
⁴ International Skeletal Dysplasia Registry, University of California, Los Angeles, California.
⁵ Department of Medical Genetics, Faculty of Medicine and Health Sciences, University of Antwerp and Antwerp University Hospital, Antwerp, Belgium.
⁶ Institute for Medical Genetics and Human Genetics, Charité Universitätsmedizin Berlin, Berlin, Germany.
⁷ Max Planck Institute for Molecular Genetics, Berlin, Germany.
⁸ Berlin-Brandenburg School for Regenerative Therapies (BSRT), Berlin, Germany.
⁹ Department of Radiology, Tokyo Metropolitan Children's Medical Center, Tokyo, Japan.
¹⁰ Department of Medical Genetics and Skeletal Rare Diseases, IRCCS Rizzoli Orthopaedic Institute (IOR), Bologna, Italy.
¹¹ Murdoch Childrens Research Institute and University of Melbourne, Parkville, Australia.
¹² Discipline of Genetic Medicine, The Children's Hospital at Westmead Clinical School, Sydney Medical School, University of Sydney, Head Connective Tissue Dysplasia Management Service, The Children's Hospital at Westmead, Sydney, Australia.
¹³ Sinzheim, Germany.
¹⁴ Department of Pediatrics,, CHUV, University of Lausanne, Switzerland.
¹⁵ Orthopaedic Research Laboratories, Boston Children's Hospital Boston.
¹⁶ Medical Genetics Service,, CHUV, University of Lausanne, Switzerland.

PMID: 26394607
DOI: 10.1002/ajmg.a.37365

Nosology and classification of genetic skeletal disorders: 2015 revision

Luisa Bonafe et al. Am J Med Genet A. 2015 Dec.

. 2015 Dec;167A(12):2869-92.

doi: 10.1002/ajmg.a.37365. Epub 2015 Sep 23.

Authors

Affiliations

¹ Centre des Maladies Moléculaires CHUV, University of Lausanne, Switzerland.
² IMAGINE Institute, Hôpital Necker Enfants Malade, Paris, France.
³ Department of Radiology, Great Ormond Street Hospital, London, UK.
⁴ International Skeletal Dysplasia Registry, University of California, Los Angeles, California.
⁵ Department of Medical Genetics, Faculty of Medicine and Health Sciences, University of Antwerp and Antwerp University Hospital, Antwerp, Belgium.
⁶ Institute for Medical Genetics and Human Genetics, Charité Universitätsmedizin Berlin, Berlin, Germany.
⁷ Max Planck Institute for Molecular Genetics, Berlin, Germany.
⁸ Berlin-Brandenburg School for Regenerative Therapies (BSRT), Berlin, Germany.
⁹ Department of Radiology, Tokyo Metropolitan Children's Medical Center, Tokyo, Japan.
¹⁰ Department of Medical Genetics and Skeletal Rare Diseases, IRCCS Rizzoli Orthopaedic Institute (IOR), Bologna, Italy.
¹¹ Murdoch Childrens Research Institute and University of Melbourne, Parkville, Australia.
¹² Discipline of Genetic Medicine, The Children's Hospital at Westmead Clinical School, Sydney Medical School, University of Sydney, Head Connective Tissue Dysplasia Management Service, The Children's Hospital at Westmead, Sydney, Australia.
¹³ Sinzheim, Germany.
¹⁴ Department of Pediatrics,, CHUV, University of Lausanne, Switzerland.
¹⁵ Orthopaedic Research Laboratories, Boston Children's Hospital Boston.
¹⁶ Medical Genetics Service,, CHUV, University of Lausanne, Switzerland.

PMID: 26394607
DOI: 10.1002/ajmg.a.37365

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.

Keywords: dwarfism; molecular basis of disease; nosology; skeletal dysplasias.

PubMed Disclaimer

Cited by

Molecular analysis of the CTSK gene in a cohort of 33 Brazilian families with pycnodysostosis from a cluster in a Brazilian Northeast region.
Araujo TF, Ribeiro EM, Arruda AP, Moreno CA, de Medeiros PF, Minillo RM, Melo DG, Kim CA, Doriqui MJ, Felix TM, Fock RA, Cavalcanti DP. Araujo TF, et al. Eur J Med Res. 2016 Aug 24;21(1):33. doi: 10.1186/s40001-016-0228-7. Eur J Med Res. 2016. PMID: 27558267 Free PMC article.
A common pathomechanism in GMAP-210- and LBR-related diseases.
Wehrle A, Witkos TM, Schneider JC, Hoppmann A, Behringer S, Köttgen A, Elting M, Spranger J, Lowe M, Lausch E. Wehrle A, et al. JCI Insight. 2018 Dec 6;3(23):e121150. doi: 10.1172/jci.insight.121150. JCI Insight. 2018. PMID: 30518689 Free PMC article.
A Recurrent De Novo Heterozygous COG4 Substitution Leads to Saul-Wilson Syndrome, Disrupted Vesicular Trafficking, and Altered Proteoglycan Glycosylation.
Ferreira CR, Xia ZJ, Clément A, Parry DA, Davids M, Taylan F, Sharma P, Turgeon CT, Blanco-Sánchez B, Ng BG, Logan CV, Wolfe LA, Solomon BD, Cho MT, Douglas G, Carvalho DR, Bratke H, Haug MG, Phillips JB, Wegner J, Tiemeyer M, Aoki K; Undiagnosed Diseases Network; Scottish Genome Partnership; Nordgren A, Hammarsjö A, Duker AL, Rohena L, Hove HB, Ek J, Adams D, Tifft CJ, Onyekweli T, Weixel T, Macnamara E, Radtke K, Powis Z, Earl D, Gabriel M, Russi AHS, Brick L, Kozenko M, Tham E, Raymond KM, Phillips JA 3rd, Tiller GE, Wilson WG, Hamid R, Malicdan MCV, Nishimura G, Grigelioniene G, Jackson A, Westerfield M, Bober MB, Gahl WA, Freeze HH. Ferreira CR, et al. Am J Hum Genet. 2018 Oct 4;103(4):553-567. doi: 10.1016/j.ajhg.2018.09.003. Am J Hum Genet. 2018. PMID: 30290151 Free PMC article.
Three-dimensional growth of tibial shaft ossification in the human fetus: a digital-image and statistical analysis.
Baumgart M, Wiśniewski M, Grzonkowska M, Badura M, Szpinda M, Pawlak-Osińska K. Baumgart M, et al. Surg Radiol Anat. 2019 Jan;41(1):87-95. doi: 10.1007/s00276-018-2138-6. Epub 2018 Nov 23. Surg Radiol Anat. 2019. PMID: 30470878 Free PMC article.
Early Resveratrol Treatment Mitigates Joint Degeneration and Dampens Pain in a Mouse Model of Pseudoachondroplasia (PSACH).
Hecht JT, Veerisetty AC, Patra D, Hossain MG, Chiu F, Mobed C, Gannon FH, Posey KL. Hecht JT, et al. Biomolecules. 2023 Oct 20;13(10):1553. doi: 10.3390/biom13101553. Biomolecules. 2023. PMID: 37892235 Free PMC article.

See all "Cited by" articles

MeSH terms

Actions
Actions
Actions
Actions

LinkOut - more resources

Full Text Sources
- Ovid Technologies, Inc.
- Wiley
Other Literature Sources
- The Lens - Patent Citations Database
Medical
- MedlinePlus Health Information

Save citation to file

Email citation

Add to Collections

Add to My Bibliography

Your saved search

Create a file for external citation management software

Your RSS Feed

Nosology and classification of genetic skeletal disorders: 2015 revision

Affiliations

Nosology and classification of genetic skeletal disorders: 2015 revision

Authors

Affiliations

Abstract

Similar articles

Cited by

MeSH terms

LinkOut - more resources

Full Text Sources

Other Literature Sources

Medical

Abstract

Similar articles

Cited by

MeSH terms

Related information

LinkOut - more resources

Full Text Sources

Other Literature Sources

Medical