Evidence That Non-Syndromic Familial Tall Stature Has an Oligogenic Origin Including Ciliary Genes.
Adolescent
Animals
Body Height
/ genetics
Carrier Proteins
/ genetics
Cell Cycle Proteins
/ genetics
Child
Child, Preschool
Cytoskeletal Proteins
/ genetics
Exome
Female
Gene Expression
Growth Disorders
/ genetics
Growth Plate
/ metabolism
Humans
Infant
Infant, Newborn
Male
Mice
NIMA-Related Kinase 1
/ genetics
Netherlands
Pedigree
Thiosulfate Sulfurtransferase
/ genetics
ciliary genes
exome sequencing
growth
growth plate
non-syndromic tall stature
oligogenic inheritance
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:
29
01
2021
accepted:
04
05
2021
entrez:
1
7
2021
pubmed:
2
7
2021
medline:
13
1
2022
Statut:
epublish
Résumé
Human growth is a complex trait. A considerable number of gene defects have been shown to cause short stature, but there are only few examples of genetic causes of non-syndromic tall stature. Besides rare variants with large effects and common risk alleles with small effect size, oligogenic effects may contribute to this phenotype. Exome sequencing was carried out in a tall male (height 3.5 SDS) and his parents. Filtered damaging variants with high CADD scores were validated by Sanger sequencing in the trio and three other affected and one unaffected family members. Network analysis was carried out to assess links between the candidate genes, and the transcriptome of murine growth plate was analyzed by microarray as well as RNA Seq. Heterozygous gene variants in
Identifiants
pubmed: 34194391
doi: 10.3389/fendo.2021.660731
pmc: PMC8237855
doi:
Substances chimiques
CROCC protein, human
0
Carrier Proteins
0
Cell Cycle Proteins
0
Cep104 protein, human
0
Cytoskeletal Proteins
0
TOM1L2 protein, human
0
NEK1 protein, human
EC 2.7.11.1
NIMA-Related Kinase 1
EC 2.7.11.1
Thiosulfate Sulfurtransferase
EC 2.8.1.1
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
660731Informations de copyright
Copyright © 2021 Weiss, Eberle, Roeth, de Bruin, Lui, Paramasivam, Hinderhofer, van Duyvenvoorde, Baron, Wit and Rappold.
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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