MED27 Variants Cause Developmental Delay, Dystonia, and Cerebellar Hypoplasia.
Adolescent
Adult
Amino Acid Sequence
Cataract
/ genetics
Cerebellum
/ abnormalities
Child
Child, Preschool
Developmental Disabilities
/ genetics
Dystonia
/ genetics
Epilepsy
/ genetics
Genetic Variation
Humans
Infant
Mediator Complex
/ genetics
Nervous System Malformations
/ genetics
Phenotype
Exome Sequencing
Journal
Annals of neurology
ISSN: 1531-8249
Titre abrégé: Ann Neurol
Pays: United States
ID NLM: 7707449
Informations de publication
Date de publication:
04 2021
04 2021
Historique:
revised:
10
01
2021
received:
11
05
2020
accepted:
11
01
2021
pubmed:
15
1
2021
medline:
26
5
2021
entrez:
14
1
2021
Statut:
ppublish
Résumé
The Mediator multiprotein complex functions as a regulator of RNA polymerase II-catalyzed gene transcription. In this study, exome sequencing detected biallelic putative disease-causing variants in MED27, encoding Mediator complex subunit 27, in 16 patients from 11 families with a novel neurodevelopmental syndrome. Patient phenotypes are highly homogeneous, including global developmental delay, intellectual disability, axial hypotonia with distal spasticity, dystonic movements, and cerebellar hypoplasia. Seizures and cataracts were noted in severely affected individuals. Identification of multiple patients with biallelic MED27 variants supports the critical role of MED27 in normal human neural development, particularly for the cerebellum. ANN NEUROL 2021;89:828-833.
Substances chimiques
MED27 protein, human
0
Mediator Complex
0
Types de publication
Journal Article
Research Support, N.I.H., Extramural
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
828-833Subventions
Organisme : United States National Institute of Health
ID : T32 GM007526-42
Organisme : NHGRI NIH HHS
ID : K08 HG008986
Pays : United States
Organisme : NHGRI NIH HHS
ID : UM1 HG006542
Pays : United States
Organisme : NINDS NIH HHS
ID : R35NS105078
Pays : United States
Informations de copyright
© 2021 American Neurological Association.
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