Skeletal abnormalities are common features in Aymé-Gripp syndrome.
Adolescent
Adult
Cataract
/ genetics
Child
Child, Preschool
Facies
Female
Genetic Predisposition to Disease
Growth Disorders
/ genetics
Hearing Loss, Sensorineural
/ genetics
Humans
Infant
Intellectual Disability
/ genetics
Male
Musculoskeletal Abnormalities
/ genetics
Mutation, Missense
/ genetics
Proto-Oncogene Proteins c-maf
/ genetics
Young Adult
MAF
Aymé-Gripp syndrome
bone defects
skeletal dysplasia
Journal
Clinical genetics
ISSN: 1399-0004
Titre abrégé: Clin Genet
Pays: Denmark
ID NLM: 0253664
Informations de publication
Date de publication:
02 2020
02 2020
Historique:
received:
07
08
2019
revised:
09
09
2019
accepted:
27
09
2019
pubmed:
11
10
2019
medline:
7
2
2021
entrez:
11
10
2019
Statut:
ppublish
Résumé
Aymé-Gripp syndrome (AYGRPS) is a recognizable condition caused by a restricted spectrum of dominantly acting missense mutations affecting the transcription factor MAF. Major clinical features of AYGRPS include congenital cataracts, sensorineural hearing loss, intellectual disability, and a distinctive flat facial appearance. Skeletal abnormalities have also been observed in affected individuals, even though these features have not been assessed systematically. Expanding the series with four additional patients, here we provide a more accurate delineation of the molecular aspects and clinical phenotype, particularly focusing on the skeletal features characterizing this disorder. Apart from previously reported malar flattening and joint limitations, we document that carpal/tarsal and long bone defects, and hip dysplasia occur in affected subjects more frequently than formerly appreciated.
Substances chimiques
MAF protein, human
0
Proto-Oncogene Proteins c-maf
0
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
362-369Informations de copyright
© 2019 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.
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