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2023 ACMG Annual Clinical Genetics Meeting Digital ...
Establishing normative collagen X levels in blood ...
Establishing normative collagen X levels in blood in individuals with achondroplasia: application to understand growth
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This document discusses the establishment of normative collagen X (CXM) levels in blood for individuals with achondroplasia, a genetic disorder that affects bone growth. Collagen X is produced by growth plate chondrocytes during active linear growth, and blood CXM levels in average stature children directly correlate with height velocity. However, in children with FGFR3-related conditions like achondroplasia, hypochondroplasia, and thanatophoric dysplasia, CXM levels are lower compared to average stature controls. CXM levels are also attenuated during the greatest linear growth period (birth to 2 years) and decrease significantly after 12 years of age in both sexes.<br /><br />The document suggests that CXM may serve as a biomarker for evaluating the response to and titration of new pharmaceuticals designed to increase height in individuals with achondroplasia. To better understand growth in people with achondroplasia, a reference database of age- and sex-specific CXM levels is needed.<br /><br />The study collected blood samples from individuals with achondroplasia enrolled in the Achondroplasia Natural History Study. CXM levels were quantified from dried blood spots. The results show that CXM values in individuals with achondroplasia are at or below those of age-matched average stature peers. Skeletally immature males tend to have higher CXM values compared to females. After linear growth stops, all CXM values in individuals with achondroplasia are below 2 ng/ml, with slightly higher values in females.<br /><br />Longitudinal CXM data and Tanner staging will be collected to assess the relationship between CXM levels and height velocity over different periods of linear growth, particularly during puberty.<br /><br />In conclusion, establishing normative CXM levels in blood can provide insights into growth patterns in individuals with achondroplasia. These findings can be useful in assessing the effectiveness of new pharmaceuticals designed to increase height in this population.
Asset Subtitle
Presenting Author - Julie E. Hoover-Fong, MD, PhD; Co-Author - Mary Ellen Little, RN; Co-Author - Janet M. Legare, MD; Co-Author - Peggy Modaff, MS, CGC; Co-Author - Lorena Dujmusic, CGC; Co-Author - Jacqueline T. Hecht, PhD; Co-Author - Maria E. Serna, BS; Co-Author - S Shahrukh Hashmi, MD, PhD; Co-Author - Michael B. Bober, MD; Co-Author - David Rodriguez-Buritica, MD;
Meta Tag
Biochemical genetics
Bone/Joint Abnormalities
Co-Author
Mary Ellen Little, RN
Co-Author
Janet M. Legare, MD
Co-Author
Peggy Modaff, MS, CGC
Co-Author
Lorena Dujmusic, CGC
Co-Author
Jacqueline T. Hecht, PhD
Co-Author
Maria E. Serna, BS
Co-Author
S Shahrukh Hashmi, MD, PhD
Co-Author
Michael B. Bober, MD
Co-Author
David Rodriguez-Buritica, MD
Presenting Author
Julie E. Hoover-Fong, MD, PhD
Keywords
normative collagen X levels
blood CXM levels
achondroplasia
genetic disorder
bone growth
growth plate chondrocytes
height velocity
FGFR3-related conditions
reference database
pharmaceuticals for height increase
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