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MED27 Variants Cause Developmental Delay, Dystonia, and Cerebellar Hypoplasia

Meng, Linyan ; Isohanni, Pirjo ; Shao, Yunru ; Graham, Brett H. ; Hickey, Scott E. ; Brooks, Stephanie ; Suomalainen, Anu ; Joset, Pascal ; Steindl, Katharina ; Rauch, Anita ; Hackenberg, Annette ; High, Frances A. ; Armstrong‐Javors, Amy ; Mencacci, Niccolò E. ; Gonzàlez‐Latapi, Paulina ; Kamel, Walaa A. ; Al‐Hashel, Jasem Y. ; Bustos, Bernabé I. ; Hernandez, Alejandro V. ; Krainc, Dimitri ; Lubbe, Steven J. ; Van Esch, Hilde ; De Luca, Chiara ; Ballon, Katleen ; Ravelli, Claudia ; Burglen, Lydie ; Qebibo, Leila ; Calame, Daniel G. ; Mitani, Tadahiro ; Marafi, Dana ; Pehlivan, Davut ; Saadi, Nebal W. ; Sahin, Yavuz ; Maroofian, Reza ; Efthymiou, Stephanie ; Houlden, Henry ; Maqbool, Shazia ; Rahman, Fatima ; Gu, Shen ; Posey, Jennifer E. ; Lupski, James R. ; Hunter, Jill V. ; Wangler, Michael F. ; Carroll, Christopher J. ; Yang, Yaping

Annals of neurology, 2021-04, Vol.89 (4), p.828-833 [Periódico revisado por pares]

Hoboken, USA: John Wiley & Sons, Inc

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Título:
MED27 Variants Cause Developmental Delay, Dystonia, and Cerebellar Hypoplasia
Autor: Meng, Linyan ; Isohanni, Pirjo ; Shao, Yunru ; Graham, Brett H. ; Hickey, Scott E. ; Brooks, Stephanie ; Suomalainen, Anu ; Joset, Pascal ; Steindl, Katharina ; Rauch, Anita ; Hackenberg, Annette ; High, Frances A. ; Armstrong‐Javors, Amy ; Mencacci, Niccolò E. ; Gonzàlez‐Latapi, Paulina ; Kamel, Walaa A. ; Al‐Hashel, Jasem Y. ; Bustos, Bernabé I. ; Hernandez, Alejandro V. ; Krainc, Dimitri ; Lubbe, Steven J. ; Van Esch, Hilde ; De Luca, Chiara ; Ballon, Katleen ; Ravelli, Claudia ; Burglen, Lydie ; Qebibo, Leila ; Calame, Daniel G. ; Mitani, Tadahiro ; Marafi, Dana ; Pehlivan, Davut ; Saadi, Nebal W. ; Sahin, Yavuz ; Maroofian, Reza ; Efthymiou, Stephanie ; Houlden, Henry ; Maqbool, Shazia ; Rahman, Fatima ; Gu, Shen ; Posey, Jennifer E. ; Lupski, James R. ; Hunter, Jill V. ; Wangler, Michael F. ; Carroll, Christopher J. ; Yang, Yaping
Assuntos: Adolescent ; Adult ; Amino Acid Sequence ; Cataract - genetics ; Cataracts ; Cerebellum ; Cerebellum - abnormalities ; Child ; Child, Preschool ; Developmental Disabilities - genetics ; DNA-directed RNA polymerase ; Dystonia ; Dystonia - genetics ; Epilepsy - genetics ; Exome Sequencing ; Genetic Variation ; Humans ; Hypoplasia ; Hypotonia ; Infant ; Intellectual disabilities ; Mediator Complex - genetics ; Nervous System Malformations - genetics ; Neurodevelopmental disorders ; Phenotype ; Phenotypes ; RNA polymerase ; RNA polymerase II ; Seizures ; Spasticity ; Transcription
É parte de: Annals of neurology, 2021-04, Vol.89 (4), p.828-833
Notas: ObjectType-Article-1
SourceType-Scholarly Journals-1
ObjectType-Feature-2
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Descrição: 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
Editor: Hoboken, USA: John Wiley & Sons, Inc
Idioma: Inglês

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MED27 Variants Cause Developmental Delay, Dystonia, and Cerebellar Hypoplasia

Hoboken, USA: John Wiley & Sons, Inc

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