Hypermobile Ehlers-Danlos syndrome (hEDS) phenotype in fragile X premutation carriers: case series.
gene expression
genetic predisposition to disease
genetics
human genetics
medical
Journal
Journal of medical genetics
ISSN: 1468-6244
Titre abrégé: J Med Genet
Pays: England
ID NLM: 2985087R
Informations de publication
Date de publication:
07 2022
07 2022
Historique:
received:
21
11
2020
accepted:
08
06
2021
pubmed:
2
7
2021
medline:
30
6
2022
entrez:
1
7
2021
Statut:
ppublish
Résumé
While an association between full mutation CGG-repeat expansions of the To report five We collected medical histories and Five cases were female and ranged between 16 and 49 years. The range of CGG-repeat allele sizes ranged from 66 to 150 repeats. All had symptoms of hEDS since early childhood. Commonalities in molecular pathogenesis and coexisting conditions between the fXPCs and hEDS are also presented. The premutation can lead to a reduction of fragile X mental retardation protein, which is crucial in maintaining functions of the extracellular matrix-related proteins, particularly matrix metallopeptidase 9 and elastin. Moreover, elevated Both hEDS phenotype and premutation involvement may co-occur because of related commonalities in pathogenesis.
Sections du résumé
BACKGROUND
While an association between full mutation CGG-repeat expansions of the
OBJECTIVE
To report five
METHODS
We collected medical histories and
RESULTS
Five cases were female and ranged between 16 and 49 years. The range of CGG-repeat allele sizes ranged from 66 to 150 repeats. All had symptoms of hEDS since early childhood. Commonalities in molecular pathogenesis and coexisting conditions between the fXPCs and hEDS are also presented. The premutation can lead to a reduction of fragile X mental retardation protein, which is crucial in maintaining functions of the extracellular matrix-related proteins, particularly matrix metallopeptidase 9 and elastin. Moreover, elevated
CONCLUSION
Both hEDS phenotype and premutation involvement may co-occur because of related commonalities in pathogenesis.
Identifiants
pubmed: 34193467
pii: jmedgenet-2020-107609
doi: 10.1136/jmedgenet-2020-107609
pmc: PMC8717836
mid: NIHMS1721110
doi:
Substances chimiques
FMR1 protein, human
0
Fragile X Mental Retardation Protein
139135-51-6
Types de publication
Journal Article
Research Support, N.I.H., Extramural
Langues
eng
Sous-ensembles de citation
IM
Pagination
687-690Subventions
Organisme : NICHD NIH HHS
ID : P50 HD103526
Pays : United States
Organisme : NICHD NIH HHS
ID : R01 HD036071
Pays : United States
Organisme : NICHD NIH HHS
ID : U54 HD079125
Pays : United States
Organisme : NCATS NIH HHS
ID : UL1 TR001860
Pays : United States
Informations de copyright
© Author(s) (or their employer(s)) 2022. No commercial re-use. See rights and permissions. Published by BMJ.
Déclaration de conflit d'intérêts
Competing interests: FT has received from Azrieli Foundation, from Zynerba and from Asuragen, Inc. for studies in fragile X syndrome.