Familial short stature - a novel phenotype of growth plate collagenopathies
The result's identifiers
Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216208%3A11130%2F21%3A10423056" target="_blank" >RIV/00216208:11130/21:10423056 - isvavai.cz</a>
Alternative codes found
RIV/00064203:_____/21:10423056
Result on the web
<a href="https://verso.is.cuni.cz/pub/verso.fpl?fname=obd_publikace_handle&handle=s8Sz-olD52" target="_blank" >https://verso.is.cuni.cz/pub/verso.fpl?fname=obd_publikace_handle&handle=s8Sz-olD52</a>
DOI - Digital Object Identifier
<a href="http://dx.doi.org/10.1210/clinem/dgab084" target="_blank" >10.1210/clinem/dgab084</a>
Alternative languages
Result language
angličtina
Original language name
Familial short stature - a novel phenotype of growth plate collagenopathies
Original language description
CONTEXT: :Collagens are the most abundant proteins in the human body. In a growth plate, collagen types II, IX, X and XI are present. Defects in collagen genes cause heterogeneous syndromic disorders frequently associated with short stature. Less is known about oligosymptomatic collagenopathies. OBJECTIVES: :To evaluate the frequency of collagenopathies in familial short stature (FSS) children and to describe their phenotype, including growth hormone (GH) treatment response. DESIGN, SETTINGS AND PATIENTS: Eighty-seven FSS children (pretreatment height <=-2 SD in both patient/their shorter parent) treated with GH were included in the study. Next-generation sequencing was performed to search for variants in COL2A1, COL9A1, COL9A2, COL9A3, COL10A1, COL11A1 and COL11A2 genes. The results were evaluated using ACMG guidelines. The GH treatment response of affected children was retrospectively evaluated. RESULTS: A likely pathogenic variant in the collagen gene was found in 10/87 (11.5%) children. Detailed examination described mild asymmetry with shorter limbs and mild bone dysplasia signs in 2/10 and 4/10 affected children, respectively. Their growth velocity improved from a median of 5.3 cm/year to 8.7 cm/year after one year of treatment. Their height improved from a median of -3.1 SD to -2.6 SD and to -2.2 SD after one and three years of therapy, respectively. The final height reached by 4/10 children differed by -0.67 to +1.0 SD and -0.45 to +0.5 SD compared to their pretreatment height and their affected untreated parent's height, respectively. CONCLUSION: Oligosymptomatic collagenopathies are a frequent cause of FSS. The short-term response to GH treatment is promising.
Czech name
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Czech description
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Classification
Type
J<sub>imp</sub> - Article in a specialist periodical, which is included in the Web of Science database
CEP classification
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OECD FORD branch
30202 - Endocrinology and metabolism (including diabetes, hormones)
Result continuities
Project
<a href="/en/project/NV18-07-00283" target="_blank" >NV18-07-00283: Studies of aetiopathogenesis and optimising management in children with intrauterine growth restriction and persistent postnatal growth failure</a><br>
Continuities
P - Projekt vyzkumu a vyvoje financovany z verejnych zdroju (s odkazem do CEP)
Others
Publication year
2021
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů
Data specific for result type
Name of the periodical
The Journal of Clinical Endocrinology & Metabolism
ISSN
0021-972X
e-ISSN
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Volume of the periodical
106
Issue of the periodical within the volume
6
Country of publishing house
US - UNITED STATES
Number of pages
8
Pages from-to
1742-1749
UT code for WoS article
000658237600041
EID of the result in the Scopus database
2-s2.0-85106539733