Genetics of the patella.
Journal
European journal of human genetics : EJHG
ISSN: 1476-5438
Titre abrégé: Eur J Hum Genet
Pays: England
ID NLM: 9302235
Informations de publication
Date de publication:
05 2019
05 2019
Historique:
received:
15
12
2017
accepted:
27
11
2018
revised:
22
11
2018
pubmed:
22
1
2019
medline:
13
6
2020
entrez:
22
1
2019
Statut:
ppublish
Résumé
We review genetic diseases with identified molecular bases that include abnormal, reduced (hypoplasia), or absent (aplasia) patellae as a significant aspect of the phenotype. The known causal genes can be broadly organized according to three major developmental and cellular processes, although some genes may act in more than one of these: limb specification and pattern formation; DNA replication and chromatin structure; bone development and differentiation. There are also several genes whose phenotypes in mice indicate relevance to patellar development, for which human equivalent syndromes have not been reported. Developmental studies in mouse and chick embryos, as well as patellar involvement in human diseases with decreased mobility, document the additional importance of local environmental factors in patellar ontogenesis. Patellar anomalies found in humans can be an important clue to a clinical genetic diagnosis, and a better knowledge of the genetics of patellar anomalies will improve our understanding of limb development.
Identifiants
pubmed: 30664715
doi: 10.1038/s41431-018-0329-6
pii: 10.1038/s41431-018-0329-6
pmc: PMC6461774
doi:
Substances chimiques
Chromatin
0
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Review
Langues
eng
Sous-ensembles de citation
IM
Pagination
671-680Références
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