Nine newly identified individuals refine the phenotype associated with MYT1L mutations-Reference-Cited by-同舟云学术

Nine newly identified individuals refine the phenotype associated with MYT1L mutations

Published:2020-02-17 Issue:5 Volume:182 Page:1021-1031
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am J Med Genet

Author:

Windheuser Isabelle C.¹,Becker Jessica¹^ORCID,Cremer Kirsten¹,Hundertmark Hela¹,Yates Laura M.²³,Mangold Elisabeth¹,Peters Sophia¹,Degenhardt Franziska¹⁴,Ludwig Kerstin U.¹⁴,Zink Alexander M.¹⁴,Lessel Davor⁵^ORCID,Bierhals Tatjana⁵,Herget Theresia⁵,Johannsen Jessika⁶,Denecke Jonas⁶,Wohlleber Eva¹,Strom Tim M.⁷,Wieczorek Dagmar⁸⁹,Bertoli Marta²,Colombo Roberto¹⁰¹¹,Hempel Maja⁵,Engels Hartmut¹^ORCID

Affiliation:

1. Institute of Human GeneticsUniversity of Bonn, University Hospital Bonn Bonn Germany

2. Northern Genetics Service, Institute of Genetic MedicineInternational Centre for Life, Central Parkway Newcastle upon Tyne UK

3. Laura M. Yates, Inkosi Albert Letholi Central Hospital and KRISPUniversity of KwaZulu‐Natal, KwaZulu‐Natal South Africa

4. Department of Genomics, Life & Brain CenterRheinische Friedrich‐Wilhelms‐University Bonn Germany

5. Institute of Human GeneticsUniversity Medical Center Hamburg‐Eppendorf Hamburg Germany

6. Department of PediatricsUniversity Medical Center Hamburg‐Eppendorf Hamburg Germany

7. Institute of Human GeneticsHelmholtz Zentrum München Neuherberg Germany

8. Institut für HumangenetikUniversitätsklinikum Düsseldorf, Heinrich‐Heine‐Universität Düsseldorf Düsseldorf Germany

9. Institut für HumangenetikUniversitätsklinikum Essen Essen Germany

10. Faculty of Medicine "Agostino Gemelli"Catholic University of the Sacred Heart Rome Italy

11. Center for the Study of Rare Hereditary DiseasesCeSMER, Niguarda Ca' Granda Metropolitan Hospital Milan Italy

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.61515

Reference21 articles.

1. MYT1L mutation in a patient causes intellectual disability and early onset of obesity: a case report and review of the literature

2. A novel presentation of a rare chromosome 2p25.2 deletion

3. MYT1L mutations cause intellectual disability and variable obesity by dysregulating gene expression and development of the neuroendocrine hypothalamus

4. A new patient with a terminal de novo 2p25.3 deletion of 1.9 Mb associated with early-onset of obesity, intellectual disabilities and hyperkinetic disorder

5. Identifying Genes Whose Mutant Transcripts Cause Dominant Disease Traits by Potential Gain-of-Function Alleles

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