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Detection of G1138A Mutation of the FGFR3 Gene in Tooth Material from a 180-Year-Old Museological Achondroplastic Skeleton

Department of Anatomy and Museum for Anatomy and Pathology, Radboud University Medical Centre, Geert Grooteplein Noord 21, 6525 EZ Nijmegen, The Netherlands
Swammerdam Institute for Life Sciences, University of Amsterdam, Science Park 904, 1098 XH Amsterdam, The Netherlands
Department of Medical Biology, Sections Clinical Anatomy & Embryology and Museum Vrolik, Academic Medical Center, University of Amsterdam, Meibergdreef 15, 1105 AZ Amsterdam, The Netherlands
Author to whom correspondence should be addressed.
These authors contributed equally to this work.
Academic Editor: Michael Hofreiter
Genes 2017, 8(9), 214;
Received: 24 July 2017 / Revised: 18 August 2017 / Accepted: 22 August 2017 / Published: 29 August 2017
(This article belongs to the Special Issue Novel and Neglected Areas of Ancient DNA Research)
PDF [1312 KB, uploaded 29 August 2017]


Throughout the last four centuries, many anatomical museums across the world have collected teratological specimens that became precious objects. These can be regarded as spirits of the past which have captured the morphology of diseases through time. These valuable and irreplaceable specimens can be perfectly used in contemporary dysmorphological or genetic research. Unfortunately, due to the historical nature of these specimens and the regularly used aggressive preservation fluids, DNA degradation is often present. Furthermore, the use of material for DNA extraction is restricted to preserve the appearance of these valuable museological specimens. Thus, the most challenging part in this perspective is to harvest sufficient DNA of good quality for further testing without damaging the specimens. Besides fixated specimens, most teratological collections contain dried skeletal and teeth materials which are an excellent source to extract DNA. We here present a DNA-based method that enables genetic identification of the G1138A mutation of the FGFR3 gene in a 180-year-old achondroplastic skeleton, confirming the previously morphologically determined disease. Nuclear DNA was extracted from a premolar tooth and the mutation was found using Sanger sequencing of a small region of the FGFR3 gene. View Full-Text
Keywords: achondroplasia; DNA analysis; FGFR3; G1138A; museum; skeletal dysplasias; teratology achondroplasia; DNA analysis; FGFR3; G1138A; museum; skeletal dysplasias; teratology

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Boer, L.L.; Naue, J.; De Rooy, L.; Oostra, R.-J. Detection of G1138A Mutation of the FGFR3 Gene in Tooth Material from a 180-Year-Old Museological Achondroplastic Skeleton. Genes 2017, 8, 214.

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