Improving the phenotype description of Basel-Vanagaite-Smirin-Yosef syndrome, MED25-related: polymicrogyria as a distinctive neuroradiological finding.
Abnormalities, Multiple
/ genetics
Child
Comparative Genomic Hybridization
Developmental Disabilities
/ genetics
Female
Humans
Intellectual Disability
/ genetics
Male
Malformations of Cortical Development
/ genetics
Mediator Complex
/ genetics
Mutation
/ genetics
Pedigree
Phenotype
Polymicrogyria
/ diagnosis
Basel-Vanagaite-Smirin-Yosef syndrome
Intellectual disability
MED25
Multiple congenital anomalies
Neuropathy
Polymicrogyria
Thin corpus callosum
Journal
Neurogenetics
ISSN: 1364-6753
Titre abrégé: Neurogenetics
Pays: United States
ID NLM: 9709714
Informations de publication
Date de publication:
03 2021
03 2021
Historique:
received:
15
06
2020
accepted:
08
08
2020
pubmed:
21
8
2020
medline:
19
11
2021
entrez:
21
8
2020
Statut:
ppublish
Résumé
Basel-Vanagaite-Smirin-Yosef syndrome (BVSYS) is an extremely rare autosomal recessive genetic disorder caused by variants in the MED25 gene. It is characterized by severe developmental delay and variable craniofacial, neurological, ocular, and cardiac anomalies. Since 2015, through whole exome sequencing, 20 patients have been described with common clinical features and biallelic variants in MED25, leading to a better definition of the phenotype associated with BVSYS. We report two young sisters, born to consanguineous parents, presenting with intellectual disability, neurological findings, and dysmorphic features typical of BVSYS, and also with bilateral perisylvian polymicrogyria. The younger sister died at the age of 1 year without autoptic examination. Whole exome sequencing detected a homozygous frameshift variant in the MED25 gene: NM_030973.3:c.1778_1779delAG, p.(Gln593Argfs). This report further delineates the most common clinical features of BVSYS and points to polymicrogyria as a distinctive neuroradiological feature of this syndrome.
Identifiants
pubmed: 32816121
doi: 10.1007/s10048-020-00625-2
pii: 10.1007/s10048-020-00625-2
doi:
Substances chimiques
MED25 protein, human
0
Mediator Complex
0
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
19-25Références
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