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
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

1258313

Informations 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.

Auteurs

Birgit Weiss (B)

Institute of Human Genetics, Heidelberg University, Heidelberg, Germany.

Tim Ott (T)

Department of Zoology, University of Hohenheim, Stuttgart, Germany.

Philipp Vick (P)

Department of Zoology, University of Hohenheim, Stuttgart, Germany.

Julian C Lui (JC)

National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD, United States.

Ralph Roeth (R)

Institute of Human Genetics, Heidelberg University, Heidelberg, Germany.

Sebastian Vogel (S)

Department of Zoology, University of Hohenheim, Stuttgart, Germany.

Stephan Waldmüller (S)

Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.

Sandra Hoffmann (S)

Institute of Human Genetics, Heidelberg University, Heidelberg, Germany.

Jeffrey Baron (J)

National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD, United States.

Jan M Wit (JM)

Division of Pediatric Endocrinology, Department of Pediatrics, Willem-Alexander Children's Hospital, Leiden University Medical Center, Leiden, Netherlands.

Gudrun A Rappold (GA)

Institute of Human Genetics, Heidelberg University, Heidelberg, Germany.

Classifications MeSH