Improving the phenotype description of Basel-Vanagaite-Smirin-Yosef syndrome, MED25-related: polymicrogyria as a distinctive neuroradiological finding.
Neurogenetics
; 22(1): 19-25, 2021 03.
Article
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| MEDLINE
| ID: mdl-32816121
ABSTRACT
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_030973.3c.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.
Palabras clave
Texto completo:
1
Banco de datos:
MEDLINE
Asunto principal:
Anomalías Múltiples
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Discapacidades del Desarrollo
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Malformaciones del Desarrollo Cortical
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Complejo Mediador
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Polimicrogiria
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Discapacidad Intelectual
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Mutación
Tipo de estudio:
Diagnostic_studies
Límite:
Child
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Female
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Humans
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Male
Idioma:
En
Año:
2021
Tipo del documento:
Article