Improving the phenotype description of Basel-Vanagaite-Smirin-Yosef syndrome, MED25 -related: polymicrogyria as a distin
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ORIGINAL ARTICLE
Improving the phenotype description of Basel-Vanagaite-Smirin-Yosef syndrome, MED25-related: polymicrogyria as a distinctive neuroradiological finding Ilenia Maini 1,2 & Edoardo Errichiello 3 & Stefano Giuseppe Caraffi 1 & Simonetta Rosato 1 & Veronica Bizzarri 1 & Marzia Pollazzon 1 & Gabriele Trimarchi 1 & Gianluca Contrò 1 & Benedetta Cavirani 1,4 & Chiara Gelmini 1 & Manuela Napoli 5 & Claudio Moratti 5 & Rosario Pascarella 5 & Susanna Rizzi 4 & Carlo Fusco 4 & Orsetta Zuffardi 3 & Livia Garavelli 1 Received: 15 June 2020 / Accepted: 8 August 2020 # Springer-Verlag GmbH Germany, part of Springer Nature 2020
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_030973.3: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. Keywords Basel-Vanagaite-Smirin-Yosef syndrome . MED25 . Polymicrogyria . Thin corpus callosum . Intellectual disability . Multiple congenital anomalies . Neuropathy
Ilenia Maini, Edoardo Errichiello, Stefano Giuseppe Caraffi, Orsetta Zuffardi and Livia Garavelli contributed equally to this work. Electronic supplementary material The online version of this article (https://doi.org/10.1007/s10048-020-00625-2) contains supplementary material, which is available to authorized users. * Livia Garavelli [email protected] 1
Medical Genetics Unit, Azienda USL-IRCCS di Reggio Emilia, Reggio Emilia, Italy
2
Child Neuropsychiatry Unit, Azienda USL di Parma, Parma, Italy
3
Unit of Medical Genetics, Department of Molecular Medicine, University of Pavia, Pavia, Italy
4
Child Neuropsychiatry Unit, Azienda USL-IRCCS di Reggio Emilia, Reggio Emilia, Italy
5
Neuroradiology Unit, Azienda USL-IRCCS di Reggio Emilia, Reggio Emilia, Italy
Introduction Basel-Vanagaite-Smirin-Yosef syndrome (MIM #616449) is an extremely rare autosomal recessive genetic disorder caused by variants in the MED25 gene on chromosome 19q13 (MIM *610197). This syndrome is characterized by severe developmental delay and variable craniofacial, neurological, ocular, and cardiac anomalies. It was first described in 2015 by BaselVanagaite et al. in 7 affected children fro
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