Redefining the MED13L syndrome

Abidemi Adegbola; Luciana Musante; Bert Callewaert; Patricia Maciel; Hao Hu; Bertrand Isidor; Sylvie Picker-Minh; Cedric Le Caignec; Barbara Delle Chiaie; Olivier Vanakker; Björn Menten; Annelies Dheedene; Nele Bockaert; Filip Roelens; Karin Decaestecker; João Silva; Gabriela Soares; Fátima Lopes; Hossein Najmabadi; Kimia Kahrizi; Gerald F. Cox; Steven P. Angus; John F. Staropoli; Ute Fischer; Vanessa Suckow; Oliver Bartsch; Andrew Chess; Hans Hilger Ropers; Thomas F. Wienker; Christoph Hübner; Angela M. Kaindl; Vera M. Kalscheuer

doi:10.1038/ejhg.2015.26

Redefining the MED13L syndrome

Abidemi Adegbola, Luciana Musante, Bert Callewaert, Patricia Maciel, Hao Hu, Bertrand Isidor, Sylvie Picker-Minh, Cedric Le Caignec, Barbara Delle Chiaie, Olivier Vanakker, Björn Menten, Annelies Dheedene, Nele Bockaert, Filip Roelens, Karin Decaestecker, João Silva, Gabriela Soares, Fátima Lopes, Hossein Najmabadi, Kimia KahriziGerald F. Cox, Steven P. Angus, John F. Staropoli, Ute Fischer, Vanessa Suckow, Oliver Bartsch, Andrew Chess, Hans Hilger Ropers, Thomas F. Wienker, Christoph Hübner, Angela M. Kaindl, Vera M. Kalscheuer

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Abstract

Congenital cardiac and neurodevelopmental deficits have been recently linked to the mediator complex subunit 13-like protein MED13L, a subunit of the CDK8-associated mediator complex that functions in transcriptional regulation through DNA-binding transcription factors and RNA polymerase II. Heterozygous MED13L variants cause transposition of the great arteries and intellectual disability (ID). Here, we report eight patients with predominantly novel MED13L variants who lack such complex congenital heart malformations. Rather, they depict a syndromic form of ID characterized by facial dysmorphism, ID, speech impairment, motor developmental delay with muscular hypotonia and behavioral difficulties. We thereby define a novel syndrome and significantly broaden the clinical spectrum associated with MED13L variants. A prominent feature of the MED13L neurocognitive presentation is profound language impairment, often in combination with articulatory deficits.

Original language	English
Pages (from-to)	1308-1317
Number of pages	10
Journal	European Journal of Human Genetics
Volume	23
Issue number	10
DOIs	https://doi.org/10.1038/ejhg.2015.26
State	Published - 22 Oct 2015

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Adegbola, A., Musante, L., Callewaert, B., Maciel, P., Hu, H., Isidor, B., Picker-Minh, S., Le Caignec, C., Chiaie, B. D., Vanakker, O., Menten, B., Dheedene, A., Bockaert, N., Roelens, F., Decaestecker, K., Silva, J., Soares, G., Lopes, F., Najmabadi, H., ... Kalscheuer, V. M. (2015). Redefining the MED13L syndrome. European Journal of Human Genetics, 23(10), 1308-1317. https://doi.org/10.1038/ejhg.2015.26

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title = "Redefining the MED13L syndrome",

abstract = "Congenital cardiac and neurodevelopmental deficits have been recently linked to the mediator complex subunit 13-like protein MED13L, a subunit of the CDK8-associated mediator complex that functions in transcriptional regulation through DNA-binding transcription factors and RNA polymerase II. Heterozygous MED13L variants cause transposition of the great arteries and intellectual disability (ID). Here, we report eight patients with predominantly novel MED13L variants who lack such complex congenital heart malformations. Rather, they depict a syndromic form of ID characterized by facial dysmorphism, ID, speech impairment, motor developmental delay with muscular hypotonia and behavioral difficulties. We thereby define a novel syndrome and significantly broaden the clinical spectrum associated with MED13L variants. A prominent feature of the MED13L neurocognitive presentation is profound language impairment, often in combination with articulatory deficits.",

author = "Abidemi Adegbola and Luciana Musante and Bert Callewaert and Patricia Maciel and Hao Hu and Bertrand Isidor and Sylvie Picker-Minh and {Le Caignec}, Cedric and Chiaie, {Barbara Delle} and Olivier Vanakker and Bj{\"o}rn Menten and Annelies Dheedene and Nele Bockaert and Filip Roelens and Karin Decaestecker and Jo{\~a}o Silva and Gabriela Soares and F{\'a}tima Lopes and Hossein Najmabadi and Kimia Kahrizi and Cox, {Gerald F.} and Angus, {Steven P.} and Staropoli, {John F.} and Ute Fischer and Vanessa Suckow and Oliver Bartsch and Andrew Chess and Ropers, {Hans Hilger} and Wienker, {Thomas F.} and Christoph H{\"u}bner and Kaindl, {Angela M.} and Kalscheuer, {Vera M.}",

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month = oct,

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doi = "10.1038/ejhg.2015.26",

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Adegbola, A, Musante, L, Callewaert, B, Maciel, P, Hu, H, Isidor, B, Picker-Minh, S, Le Caignec, C, Chiaie, BD, Vanakker, O, Menten, B, Dheedene, A, Bockaert, N, Roelens, F, Decaestecker, K, Silva, J, Soares, G, Lopes, F, Najmabadi, H, Kahrizi, K, Cox, GF, Angus, SP, Staropoli, JF, Fischer, U, Suckow, V, Bartsch, O, Chess, A, Ropers, HH, Wienker, TF, Hübner, C, Kaindl, AM & Kalscheuer, VM 2015, 'Redefining the MED13L syndrome', European Journal of Human Genetics, vol. 23, no. 10, pp. 1308-1317. https://doi.org/10.1038/ejhg.2015.26

TY - JOUR

T1 - Redefining the MED13L syndrome

AU - Adegbola, Abidemi

AU - Musante, Luciana

AU - Callewaert, Bert

AU - Maciel, Patricia

AU - Hu, Hao

AU - Isidor, Bertrand

AU - Picker-Minh, Sylvie

AU - Le Caignec, Cedric

AU - Chiaie, Barbara Delle

AU - Vanakker, Olivier

AU - Menten, Björn

AU - Dheedene, Annelies

AU - Bockaert, Nele

AU - Roelens, Filip

AU - Decaestecker, Karin

AU - Silva, João

AU - Soares, Gabriela

AU - Lopes, Fátima

AU - Najmabadi, Hossein

AU - Kahrizi, Kimia

AU - Cox, Gerald F.

AU - Angus, Steven P.

AU - Staropoli, John F.

AU - Fischer, Ute

AU - Suckow, Vanessa

AU - Bartsch, Oliver

AU - Chess, Andrew

AU - Ropers, Hans Hilger

AU - Wienker, Thomas F.

AU - Hübner, Christoph

AU - Kaindl, Angela M.

AU - Kalscheuer, Vera M.

PY - 2015/10/22

Y1 - 2015/10/22

N2 - Congenital cardiac and neurodevelopmental deficits have been recently linked to the mediator complex subunit 13-like protein MED13L, a subunit of the CDK8-associated mediator complex that functions in transcriptional regulation through DNA-binding transcription factors and RNA polymerase II. Heterozygous MED13L variants cause transposition of the great arteries and intellectual disability (ID). Here, we report eight patients with predominantly novel MED13L variants who lack such complex congenital heart malformations. Rather, they depict a syndromic form of ID characterized by facial dysmorphism, ID, speech impairment, motor developmental delay with muscular hypotonia and behavioral difficulties. We thereby define a novel syndrome and significantly broaden the clinical spectrum associated with MED13L variants. A prominent feature of the MED13L neurocognitive presentation is profound language impairment, often in combination with articulatory deficits.

AB - Congenital cardiac and neurodevelopmental deficits have been recently linked to the mediator complex subunit 13-like protein MED13L, a subunit of the CDK8-associated mediator complex that functions in transcriptional regulation through DNA-binding transcription factors and RNA polymerase II. Heterozygous MED13L variants cause transposition of the great arteries and intellectual disability (ID). Here, we report eight patients with predominantly novel MED13L variants who lack such complex congenital heart malformations. Rather, they depict a syndromic form of ID characterized by facial dysmorphism, ID, speech impairment, motor developmental delay with muscular hypotonia and behavioral difficulties. We thereby define a novel syndrome and significantly broaden the clinical spectrum associated with MED13L variants. A prominent feature of the MED13L neurocognitive presentation is profound language impairment, often in combination with articulatory deficits.

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U2 - 10.1038/ejhg.2015.26

DO - 10.1038/ejhg.2015.26

M3 - Article

C2 - 25758992

AN - SCOPUS:84944171575

SN - 1018-4813

VL - 23

SP - 1308

EP - 1317

JO - European Journal of Human Genetics

JF - European Journal of Human Genetics

IS - 10

ER -

Redefining the MED13L syndrome

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