Pathogenic and Low-Frequency Variants in Children With Central Precocious Puberty.
Brain Diseases
/ epidemiology
Calcium-Binding Proteins
/ genetics
Child
Child, Preschool
Cohort Studies
Cyprus
/ epidemiology
DNA Mutational Analysis
Female
Gene Frequency
High-Throughput Nucleotide Sequencing
Humans
Kisspeptins
/ genetics
Male
Membrane Proteins
/ genetics
Mutation
Puberty, Precocious
/ epidemiology
Receptors, Kisspeptin-1
/ genetics
Ubiquitin-Protein Ligases
/ genetics
Exome Sequencing
DLK1
KISS1
KISS1R, MAGEL2
MKRN3
central precocious puberty
next-generation sequencing
Journal
Frontiers in endocrinology
ISSN: 1664-2392
Titre abrégé: Front Endocrinol (Lausanne)
Pays: Switzerland
ID NLM: 101555782
Informations de publication
Date de publication:
2021
2021
Historique:
received:
21
07
2021
accepted:
03
09
2021
entrez:
11
10
2021
pubmed:
12
10
2021
medline:
15
2
2022
Statut:
epublish
Résumé
Central precocious puberty (CPP) due to premature activation of GnRH secretion results in early epiphyseal fusion and to a significant compromise in the achieved final adult height. Currently, few genetic determinants of children with CPP have been described. In this translational study, rare sequence variants in Fifty-four index girls and two index boys with CPP were first tested by Sanger sequencing for the Three previously described pathogenic The results of the present study confirm the importance of the MKRN3-imprinted gene in genetics of CPP and its key role in pubertal timing. Overall, the results of the present study have emphasized the importance of an approach that aligns genetics and clinical aspects, which is necessary for the management and treatment of CPP.
Sections du résumé
Background
Central precocious puberty (CPP) due to premature activation of GnRH secretion results in early epiphyseal fusion and to a significant compromise in the achieved final adult height. Currently, few genetic determinants of children with CPP have been described. In this translational study, rare sequence variants in
Methods
Fifty-four index girls and two index boys with CPP were first tested by Sanger sequencing for the
Results
Three previously described pathogenic
Conclusion
The results of the present study confirm the importance of the MKRN3-imprinted gene in genetics of CPP and its key role in pubertal timing. Overall, the results of the present study have emphasized the importance of an approach that aligns genetics and clinical aspects, which is necessary for the management and treatment of CPP.
Identifiants
pubmed: 34630334
doi: 10.3389/fendo.2021.745048
pmc: PMC8498594
doi:
Substances chimiques
Calcium-Binding Proteins
0
DLK1 protein, human
0
KISS1 protein, human
0
KISS1R protein, human
0
Kisspeptins
0
Membrane Proteins
0
Receptors, Kisspeptin-1
0
MKRN3 protein, human
EC 2.3.2.27
Ubiquitin-Protein Ligases
EC 2.3.2.27
Banques de données
Dryad
['10.5061/dryad.8pk0p2nnj']
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
745048Informations de copyright
Copyright © 2021 Neocleous, Fanis, Toumba, Gorka, Kousiappa, Tanteles, Iasonides, Nicolaides, Christou, Michailidou, Nicolaou, Papacostas, Christoforidis, Kyriakou, Vlachakis, Skordis and Phylactou.
Déclaration de conflit d'intérêts
The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest.
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