Familial short stature - a novel phenotype of growth plate collagenopathies

Kód výsledku v 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>

Nalezeny alternativní kódy

RIV/00064203:_____/21:10423056

Výsledek na webu

<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>

Jazyk výsledku

angličtina

Název v původním jazyce

Familial short stature - a novel phenotype of growth plate collagenopathies

Popis výsledku v původním jazyce

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 &lt;=-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&apos;s height, respectively. CONCLUSION: Oligosymptomatic collagenopathies are a frequent cause of FSS. The short-term response to GH treatment is promising.

Název v anglickém jazyce

Familial short stature - a novel phenotype of growth plate collagenopathies

Popis výsledku anglicky

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 &lt;=-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&apos;s height, respectively. CONCLUSION: Oligosymptomatic collagenopathies are a frequent cause of FSS. The short-term response to GH treatment is promising.

Druh

J_imp - Článek v periodiku v databázi Web of Science

CEP obor

—

OECD FORD obor

30202 - Endocrinology and metabolism (including diabetes, hormones)

Projekt

<a href="/cs/project/NV18-07-00283" target="_blank" >NV18-07-00283: Studium etiopatogeneze a optimalizace léčby u dětí s intrauterinní růstovou restrikcí a postnatálně přetrvávajícím selháním růstu</a><br>

Návaznosti

P - Projekt vyzkumu a vyvoje financovany z verejnych zdroju (s odkazem do CEP)

Rok uplatnění

2021

Kód důvěrnosti údajů

S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

Název periodika

The Journal of Clinical Endocrinology &amp; Metabolism

ISSN

0021-972X

e-ISSN

—

Svazek periodika

106

Číslo periodika v rámci svazku

6

Stát vydavatele periodika

US - Spojené státy americké

Počet stran výsledku

8

Strana od-do

1742-1749

Kód UT WoS článku

000658237600041

EID výsledku v databázi Scopus

2-s2.0-85106539733