A de novo 13q31.3 microduplication encompassing the miR-17 ~ 92 cluster results in features mirroring those associated with Feingold syndrome 2.
Détails
ID Serval
serval:BIB_017FC4960245
Type
Article: article d'un périodique ou d'un magazine.
Collection
Publications
Institution
Titre
A de novo 13q31.3 microduplication encompassing the miR-17 ~ 92 cluster results in features mirroring those associated with Feingold syndrome 2.
Périodique
Gene
ISSN
1879-0038 (Electronic)
ISSN-L
0378-1119
Statut éditorial
Publié
Date de publication
30/08/2020
Peer-reviewed
Oui
Volume
753
Pages
144816
Langue
anglais
Notes
Publication types: Case Reports ; Journal Article
Publication Status: ppublish
Publication Status: ppublish
Résumé
Hemizygosity of the MIR17HG gene encoding the miR-17 ~ 92 cluster is associated with Feingold syndrome 2 characterized by intellectual disability, skeletal abnormalities, short stature, and microcephaly. Here, we report on a female with a de novo 13q31.3 microduplication encompassing MIR17HG but excluding GPC5. She presented developmental delay, skeletal and digital abnormalities, and features such as tall stature and macrocephaly mirroring those of Feingold syndrome 2 patients. The limited extent of the proband's rearrangement to the miR cluster and the corresponding normal expression level of the neighboring GPC5 in her cells, together with previously described data on affected individuals of two families carrying overlapping duplications of the miR-17 ~ 92 cluster that comprise part of GPC5, who likewise presented macrocephaly, developmental delay, as well as skeletal, digital and stature abnormalities, allow to define a new syndrome due to independent microduplication of the miR-17 ~ 92 cluster.
Mots-clé
Adolescent, Chromosome Deletion, Chromosome Disorders/genetics, Chromosomes, Human, Pair 13/genetics, Comparative Genomic Hybridization/methods, Developmental Disabilities/genetics, Dwarfism/genetics, Eyelids/abnormalities, Female, Gene Duplication/genetics, Glypicans/genetics, Glypicans/metabolism, Humans, Intellectual Disability/genetics, Limb Deformities, Congenital/genetics, MicroRNAs/genetics, Microcephaly/genetics, Phenotype, Tracheoesophageal Fistula/genetics, 13q31.3 microduplication, Feingold syndrome 2, GPC5, MIR17HG, miR-17 ~ 92 cluster, qPCR
Pubmed
Web of science
Création de la notice
10/06/2020 21:03
Dernière modification de la notice
22/02/2023 6:52