Abstract
The “Nosology of genetic skeletal disorders” has undergone its 11th revision and now contains 771 entries associated with 552 genes reflecting advances in molecular delineation of new disorders thanks to advances in DNA sequencing technology. The most significant change as compared to previous versions is the adoption of the dyadic naming system, systematically associating a phenotypic entity with the gene it arises from. We consider this a significant step forward as dyadic naming is more informative and less prone to errors than the traditional use of list numberings and eponyms. Despite the adoption of dyadic naming, efforts have been made to maintain strong ties to the MIM catalog and its historical data. As with the previous versions, the list of disorders and genes in the Nosology may be useful in considering the differential diagnosis in the clinic, directing bioinformatic analysis of next-generation sequencing results, and providing a basis for novel advances in biology and medicine.
| Original language | English |
|---|---|
| Pages (from-to) | 1164-1209 |
| Number of pages | 46 |
| Journal | American Journal of Medical Genetics, Part A |
| Volume | 191 |
| Issue number | 5 |
| DOIs | |
| Publication status | Published - May 2023 |
ASJC Scopus subject areas
- Genetics
- Genetics(clinical)
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In: American Journal of Medical Genetics, Part A, Vol. 191, No. 5, 05.2023, p. 1164-1209.
Research output: Contribution to journal › Article › peer-review
}
TY - JOUR
T1 - Nosology of genetic skeletal disorders
T2 - 2023 revision
AU - Unger, Sheila
AU - Ferreira, Carlos R.
AU - Mortier, Geert R.
AU - Ali, Houda
AU - Bertola, Débora R.
AU - Calder, Alistair
AU - Cohn, Daniel H.
AU - Cormier-Daire, Valerie
AU - Girisha, Katta M.
AU - Hall, Christine
AU - Krakow, Deborah
AU - Makitie, Outi
AU - Mundlos, Stefan
AU - Nishimura, Gen
AU - Robertson, Stephen P.
AU - Savarirayan, Ravi
AU - Sillence, David
AU - Simon, Marleen
AU - Sutton, V. Reid
AU - Warman, Matthew L.
AU - Superti-Furga, Andrea
N1 - Funding Information: We wish to acknowledge constructive exchanges with Dr. Ada Hamosh at the McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University, Baltimore, USA, concerning the integration between the Nosology and the MIM catalog, as well as with Dr. Leslie G. Biesecker, Center for Precision Health Research, NHGRI, Bethesda, USA, concerning the adoption of the dyadic nomenclature system. The skillful assistance and graciousness of Mrs. Nathalie Zumstein in organizing the Nosology sessions in Lausanne (March 2022) is also gratefully acknowledged. This work was supported by the International Skeletal Dysplasia Society (www.isds.ch) with secretarial logistics, the University of Lausanne (support to Sheila Unger and Andrea Superti-Furga), the NIH/NHGRI (to Carlos R. Ferreira), the DBT/Wellcome Trust India Alliance Grant “Center for Rare Disease Diagnosis, Research and Training number: IA/CRC/20/1/600002” (to Katta M. Girisha), the Sigrid Jusélius Foundation (grant to Outi Makitie), the National Health and Medical Research Council of Australia Leadership Fellow Grant #GNT2018081 (to Ravi Savarirayan), and Curekids New Zealand (support to Stephen P. Robertson). Open access funding provided by Universite de Lausanne. Funding Information: We wish to acknowledge constructive exchanges with Dr. Ada Hamosh at the McKusick‐Nathans Institute of Genetic Medicine, Johns Hopkins University, Baltimore, USA, concerning the integration between the Nosology and the MIM catalog, as well as with Dr. Leslie G. Biesecker, Center for Precision Health Research, NHGRI, Bethesda, USA, concerning the adoption of the dyadic nomenclature system. The skillful assistance and graciousness of Mrs. Nathalie Zumstein in organizing the Nosology sessions in Lausanne (March 2022) is also gratefully acknowledged. This work was supported by the International Skeletal Dysplasia Society ( www.isds.ch ) with secretarial logistics, the University of Lausanne (support to Sheila Unger and Andrea Superti‐Furga), the NIH/NHGRI (to Carlos R. Ferreira), the DBT/Wellcome Trust India Alliance Grant “Center for Rare Disease Diagnosis, Research and Training number: IA/CRC/20/1/600002” (to Katta M. Girisha), the Sigrid Jusélius Foundation (grant to Outi Makitie), the National Health and Medical Research Council of Australia Leadership Fellow Grant #GNT2018081 (to Ravi Savarirayan), and Curekids New Zealand (support to Stephen P. Robertson). Open access funding provided by Universite de Lausanne. Publisher Copyright: © 2023 The Authors. American Journal of Medical Genetics Part A published by Wiley Periodicals LLC. This article has been contributed to by U.S. Government employees and their work is in the public domain in the USA.
PY - 2023/5
Y1 - 2023/5
N2 - The “Nosology of genetic skeletal disorders” has undergone its 11th revision and now contains 771 entries associated with 552 genes reflecting advances in molecular delineation of new disorders thanks to advances in DNA sequencing technology. The most significant change as compared to previous versions is the adoption of the dyadic naming system, systematically associating a phenotypic entity with the gene it arises from. We consider this a significant step forward as dyadic naming is more informative and less prone to errors than the traditional use of list numberings and eponyms. Despite the adoption of dyadic naming, efforts have been made to maintain strong ties to the MIM catalog and its historical data. As with the previous versions, the list of disorders and genes in the Nosology may be useful in considering the differential diagnosis in the clinic, directing bioinformatic analysis of next-generation sequencing results, and providing a basis for novel advances in biology and medicine.
AB - The “Nosology of genetic skeletal disorders” has undergone its 11th revision and now contains 771 entries associated with 552 genes reflecting advances in molecular delineation of new disorders thanks to advances in DNA sequencing technology. The most significant change as compared to previous versions is the adoption of the dyadic naming system, systematically associating a phenotypic entity with the gene it arises from. We consider this a significant step forward as dyadic naming is more informative and less prone to errors than the traditional use of list numberings and eponyms. Despite the adoption of dyadic naming, efforts have been made to maintain strong ties to the MIM catalog and its historical data. As with the previous versions, the list of disorders and genes in the Nosology may be useful in considering the differential diagnosis in the clinic, directing bioinformatic analysis of next-generation sequencing results, and providing a basis for novel advances in biology and medicine.
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UR - http://www.scopus.com/inward/citedby.url?scp=85148024166&partnerID=8YFLogxK
UR - https://www.mendeley.com/catalogue/7870c6c4-cb43-35c5-9b53-297d5ba8b8dd/
U2 - 10.1002/ajmg.a.63132
DO - 10.1002/ajmg.a.63132
M3 - Article
C2 - 36779427
AN - SCOPUS:85148024166
SN - 1552-4825
VL - 191
SP - 1164
EP - 1209
JO - American Journal of Medical Genetics, Part A
JF - American Journal of Medical Genetics, Part A
IS - 5
ER -