The recurrent <scp> <i>TCF4</i> </scp> missense variant p.( <scp>Arg389Cys</scp> ) causes a neurodevelopmental disorder overlapping with but not typical for <scp>Pitt‐Hopkins</scp> syndrome-Reference-Cited by-同舟云学术

The recurrent TCF4 missense variant p.( Arg389Cys ) causes a neurodevelopmental disorder overlapping with but not typical for Pitt‐Hopkins syndrome

Published:2022-08-16 Issue:6 Volume:102 Page:517-523
ISSN:0009-9163
Container-title:Clinical Genetics
language:en
Short-container-title:Clinical Genetics

Author:

Popp Bernt¹²,Bienvenu Thierry³^ORCID,Giurgea Irina⁴,Metreau Julia⁵,Kraus Cornelia⁶,Reis André⁶,Fischer Jan⁷,Bralo María Palomares⁸⁹¹⁰,Tenorio‐Castaño Jair⁸⁹¹⁰^ORCID,Lapunzina Pablo⁸⁹¹⁰^ORCID,Almoguera Berta¹⁰¹¹,Lopez‐Grondona Fermina¹⁰¹¹,Sticht Heinrich¹²,Zweier Christiane⁶¹³^ORCID

Affiliation:

1. Institute of Human Genetics University of Leipzig Medical Center Leipzig Germany

2. Center of Functional Genomics Berlin Institute of Health at Charité ‐ Universitätsmedizin Berlin Berlin Germany

3. INSERM U1266, Institut de Psychiatrie et de Neurosciences de Paris Université de Paris Paris France

4. Département de Génétique Médicale INSERM Childhood Genetic Diseases, AP‐HP. Sorbonne Université, Hôpital Trousseau Paris France

5. APHP, Service de Neurologie Pédiatrique Hôpital Universitaire Bicetre Le Kremlin‐Bicetre France

6. Institute of Human Genetics Universitätsklinikum Erlangen, Friedrich‐Alexander‐Universität Erlangen‐Nürnberg Erlangen Germany

7. Institute for Clinical Genetics University Hospital Carl Gustav Carus at the Technische Universität Dresden Dresden Germany

8. INGEMM, Institute of Medical and Molecular Genetics Hospital Universitario La Paz, IDIPAZ Madrid Spain

9. ITHACA European Reference Network Spain

10. CIBERER, Centro de Investigación Biomédica en Red de Enfermedades Raras ISCIII Madrid Spain

11. Department of Genetics and Genomics Fundación Jiménez Díaz University Hospital Madrid Spain

12. Institute of Biochemistry Friedrich‐Alexander‐Universität Erlangen‐Nürnberg Erlangen Germany

13. Department of Human Genetics Inselspital, Bern University Hospital, University of Bern Bern Switzerland

Funder

Wellcome Trust

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/cge.14206

Reference23 articles.

1. A syndrome of mental retardation, wide mouth and intermittent overbreathing;Pitt D;Aust Paediatr J,1978

2. Mutations in TCF4, Encoding a Class I Basic Helix-Loop-Helix Transcription Factor, Are Responsible for Pitt-Hopkins Syndrome, a Severe Epileptic Encephalopathy Associated with Autonomic Dysfunction

3. Haploinsufficiency of TCF4 Causes Syndromal Mental Retardation with Intermittent Hyperventilation (Pitt-Hopkins Syndrome)

4. SweetserDA ElsharkawiI YonkerL SteevesM ParkinK ThibertR.Pitt‐Hopkins Syndrome. In: Pagon RA Adam MP Bird TD et al. eds. GeneReviews®[Internet]. Seattle (WA): University of Washington Seattle; 1993‐2014.

5. Further delineation of Pitt-Hopkins syndrome: phenotypic and genotypic description of 16 novel patients

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1. DNA methylation episignature and comparative epigenomic profiling for Pitt-Hopkins syndrome caused by TCF4 variants;Human Genetics and Genomics Advances;2024-07

2. Expanding the phenotype in Pitt-Hopkins syndrome; description of new oral finding and dental management considerations;BMC Oral Health;2024-05-22

3. A patient with Pitt–Hopkins syndrome with concomitant common variable immunodeficiency;American Journal of Medical Genetics Part A;2023-12-08

4. A typical variant in TCF4 exon 18 is not associated with P itt– H opkins syndrome but with a familial case of mild and nonspecific neurodevelopmental disorder;American Journal of Medical Genetics Part A;2022-12-27