Identification of novel genes including
IFT140
NAV2
Xenopus
all-trans retinoic acid
growth plate
isolated 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:
2023
2023
Historique:
received:
13
07
2023
accepted:
07
11
2023
medline:
28
12
2023
pubmed:
28
12
2023
entrez:
28
12
2023
Statut:
epublish
Résumé
Very tall people attract much attention and represent a clinically and genetically heterogenous group of individuals. Identifying the genetic etiology can provide important insights into the molecular mechanisms regulating linear growth. We studied a three-generation pedigree with five isolated (non-syndromic) tall members and one individual with normal stature by whole exome sequencing; the tallest man had a height of 211 cm. Six heterozygous gene variants predicted as damaging were shared among the four genetically related tall individuals and not present in a family member with normal height. To gain insight into the putative role of these candidate genes in bone growth, we assessed the transcriptome of murine growth plate by microarray and RNA Seq. Two (
Identifiants
pubmed: 38152138
doi: 10.3389/fendo.2023.1258313
pmc: PMC10752378
doi:
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
1258313Informations de copyright
Copyright © 2023 Weiss, Ott, Vick, Lui, Roeth, Vogel, Waldmüller, Hoffmann, 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.