Genetic testing of children with familial tall stature: is it worth doing?
The result's identifiers
Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216208%3A11130%2F24%3A10475586" target="_blank" >RIV/00216208:11130/24:10475586 - isvavai.cz</a>
Alternative codes found
RIV/00064203:_____/24:10475586
Result on the web
<a href="https://verso.is.cuni.cz/pub/verso.fpl?fname=obd_publikace_handle&handle=lHPzg2U4m-" target="_blank" >https://verso.is.cuni.cz/pub/verso.fpl?fname=obd_publikace_handle&handle=lHPzg2U4m-</a>
DOI - Digital Object Identifier
<a href="http://dx.doi.org/10.1210/clinem/dgae067" target="_blank" >10.1210/clinem/dgae067</a>
Alternative languages
Result language
angličtina
Original language name
Genetic testing of children with familial tall stature: is it worth doing?
Original language description
CONTEXT: Familial tall stature (FTS) is considered to be a benign variant of growth with a presumed polygenic etiology. However, monogenic disorders with possible associated pathological features could also be hidden under the FTS phenotype. OBJECTIVES: To elucidate the genetic etiology in families with FTS and to describe their phenotype in detail. DESIGN, SETTINGS AND PATIENTS: Children with FTS (height in both the child and his/her taller parent >2 SD) referred to the Endocrinology center of Motol University Hospital were enrolled to the study. Their DNA was examined cytogenetically and via next-generation sequencing panel of 786 genes associated with growth. The genetic results were evaluated by the American College of Molecular Genetics and Genomics guidelines. All of the participants underwent standard endocrinological examination followed by specialized anthropometric evaluation. RESULTS: In total, 34 children (19 girls) with FTS were enrolled in the study. Their median height and their taller parent's height were 3.1 SD and 2.5 SD, respectively. The genetic cause of FTS was elucidated in 11/34 (32.4%) children (47, XXX and 47, XYY karyotypes, SHOX duplication, and causative variants in NSD1 [in 2], SUZ12 [in 2], FGFR3, CHD8, GPC3, and PPP2R5D genes). Ten children had absent syndromic sings and 24 had dysmorphic features. CONCLUSION: Monogenic (and cytogenetic) etiology of FTS can be found among children with FTS. Genetic examination should be considered in all children with FTS regardless of the presence of dysmorphic features.
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
30209 - Paediatrics
Result continuities
Project
<a href="/en/project/NU21-07-00335" target="_blank" >NU21-07-00335: Analysis of genetic causes of overgrowth and assessment of related oncological, musculoskeletal and cardiovascular risks</a><br>
Continuities
P - Projekt vyzkumu a vyvoje financovany z verejnych zdroju (s odkazem do CEP)
Others
Publication year
2024
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
1945-7197
Volume of the periodical
109
Issue of the periodical within the volume
11
Country of publishing house
US - UNITED STATES
Number of pages
7
Pages from-to
"e2009"-"e2015"
UT code for WoS article
001163639200001
EID of the result in the Scopus database
2-s2.0-85206598679