Etiology of combined pituitary hormone deficiency: GNAO1 as a novel candidate gene

Result code in IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216208%3A11130%2F24%3A10482440" target="_blank" >RIV/00216208:11130/24:10482440 - isvavai.cz</a>

Alternative codes found

RIV/00064203:_____/24:10482440

Result on the web

<a href="https://verso.is.cuni.cz/pub/verso.fpl?fname=obd_publikace_handle&handle=rTqHD3zcie" target="_blank" >https://verso.is.cuni.cz/pub/verso.fpl?fname=obd_publikace_handle&handle=rTqHD3zcie</a>

DOI - Digital Object Identifier

<a href="http://dx.doi.org/10.1530/EC-24-0217" target="_blank" >10.1530/EC-24-0217</a>

Result language

angličtina

Original language name

Etiology of combined pituitary hormone deficiency: GNAO1 as a novel candidate gene

Original language description

Because causes of combined pituitary hormone deficiency (CPHD) are complex, the etiology of congenital CPHD remains unknown in most cases. The aim of the study was to identify the genetic etiology of CPHD in a well-defined single-center cohort. In total, 34 children (12 girls) with congenital CPHD (growth hormone (GH) deficiency and impaired secretion of at least one other pituitary hormone) treated with GH in our center were enrolled to the study. Their median age was 11.2 years, pre-treatment height -3.2 SD, and maximal stimulated GH 1.4 ug/L. Of them, 30 had central adrenal insufficiency, 27 central hypothyroidism, 10 hypogonadotropic hypogonadism, 3 central diabetes insipidus. Twenty-six children had a midline defect on MRI. Children with a clinical suspicion on specific genetic disorder underwent genetic examination of the gene(s) of interest via Sanger sequencing or array comparative genomic hybridization. Children without detected causal variant after the first-tier testing or with no suspicion of specific genetic disorder were subsequently examined using next-generation sequencing growth panel. Variants were evaluated by the American College of Medical Genetics standards. Genetic etiology was confirmed in 7/34 (21%) children. Chromosomal aberrations were found in one child (14q microdeletion involving OTX2 gene). The remaining 6 children had causative genetic variants in GLI2, PROP1, POU1F1, TBX3, PMM2, and GNAO1 genes, respectively. We elucidated cause of CPHD in a fifth of patients. Our study supports the PMM2 gene as a candidate gene for CPHD and suggests pathogenic variants in the GNAO1 gene as a potential novel genetic cause of CPHD..

Czech name

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Czech description

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Type

J_imp - Article in a specialist periodical, which is included in the Web of Science database

CEP classification

—

OECD FORD branch

30209 - Paediatrics

Project

<a href="/en/project/NU22J-07-00014" target="_blank" >NU22J-07-00014: Elucidating the etiopathogenesis of a growth disorder in children with clinically diagnosed growth hormone deficiency using modern genetic methods as a way to optimize the diagnostics and the treatment</a><br>

Continuities

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

Publication year

2024

Confidentiality

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

Name of the periodical

Endocrine Connections

ISSN

2049-3614

e-ISSN

—

Volume of the periodical

13

Issue of the periodical within the volume

10

Country of publishing house

GB - UNITED KINGDOM

Number of pages

8

Pages from-to

e240217

UT code for WoS article

001382057600007

EID of the result in the Scopus database

2-s2.0-85203189216