Screening of a large Rubinstein–Taybi cohort identified many novel variants and emphasizes the importance of the CREBBP histone acetyltransferase domain-Reference-Cited by-同舟云学术

Screening of a large Rubinstein–Taybi cohort identified many novel variants and emphasizes the importance of the CREBBP histone acetyltransferase domain

Published:2020-08-21 Issue:11 Volume:182 Page:2508-2520
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am J Med Genet

Author:

Cross Esther¹,Duncan‐Flavell Philippa J.¹,Howarth Rachel J.¹,Hobbs James I.¹,Thomas Nicholas Simon¹²,Bunyan David J.¹²^ORCID

Affiliation:

1. Wessex Regional Genetics Laboratory Salisbury District Hospital Salisbury UK

2. Faculty of Medicine University of Southampton Southampton UK

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.61813

Reference47 articles.

1. E1A-associated p300 and CREB-associated CBP belong to a conserved family of coactivators

2. Genotype–phenotype specificity in Menke–Hennekam syndrome caused by missense variants in exon 30 or 31 of CREBBP

3. DNA sequencing of CREBBP demonstrates mutations in 56% of patients with Rubinstein–Taybi syndrome (RSTS) and in another patient with incomplete RSTS

4. Two patients with EP300 mutations and facial dysmorphism different from the classic Rubinstein-Taybi syndrome

5. Inheritance and variable expression in Rubinstein-Taybi syndrome

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1. Menke-Hennekam syndrome; delineation of domain-specific subtypes with distinct clinical and DNA methylation profiles;Human Genetics and Genomics Advances;2024-07

2. Diagnosis and management in Rubinstein-Taybi syndrome: first international consensus statement;Journal of Medical Genetics;2024-03-12

3. A case of bilateral elbow dislocation in a patient with Rubinstein-Taybi syndrome;JSES International;2023-07

4. Dysregulated histone acetylation causes congenital diseases;Gene Reports;2023-06

5. Exploring genotype–phenotype correlations in CREBBP: comment on the literature and description of an additional patient with an atypical outcome;European Journal of Human Genetics;2023-05-29