An HNRNPK-specific DNA methylation signature makes sense of missense variants and expands the phenotypic spectrum of Au-Kline syndrome-Reference-Cited by-同舟云学术

An HNRNPK-specific DNA methylation signature makes sense of missense variants and expands the phenotypic spectrum of Au-Kline syndrome

Published:2022-10 Issue:10 Volume:109 Page:1867-1884
ISSN:0002-9297
Container-title:The American Journal of Human Genetics
language:en
Short-container-title:The American Journal of Human Genetics

Author:

Choufani Sanaa,McNiven Vanda,Cytrynbaum Cheryl,Jangjoo Maryam,Adam Margaret P.,Bjornsson Hans T.,Harris Jacqueline,Dyment David A.,Graham Gail E.,Nezarati Marjan M.,Aul Ritu B.,Castiglioni Claudia,Breckpot Jeroen,Devriendt Koen,Stewart Helen,Banos-Pinero Benito,Mehta Sarju,Sandford Richard,Dunn Carolyn,Mathevet Remi,van Maldergem Lionel,Piard Juliette,Brischoux-Boucher Elise,Vitobello Antonio,Faivre Laurence,Bournez Marie,Tran-Mau Frederic,Maystadt Isabelle,Fernández-Jaén Alberto,Alvarez Sara,García-Prieto Irene Díez,Alkuraya Fowzan S.,Alsaif Hessa S.,Rahbeeni Zuhair,El-Akouri Karen,Al-Mureikhi Mariam,Spillmann Rebecca C.,Shashi Vandana,Sanchez-Lara Pedro A.,Graham John M.,Roberts Amy,Chorin Odelia,Evrony Gilad D.,Kraatari-Tiri Minna,Dudding-Byth Tracy,Richardson Anamaria,Hunt David,Hamilton Laura,Dyack Sarah,Mendelsohn Bryce A.,Rodríguez Nicolás,Sánchez-Martínez Rosario,Tenorio-Castaño Jair,Nevado Julián,Lapunzina Pablo,Tirado Pilar,Carminho Amaro Rodrigues Maria-Teresa,Quteineh Lina,Innes A. Micheil,Kline Antonie D.,Au P.Y. Billie,Weksberg Rosanna^ORCID

Publisher

Elsevier BV

Subject

Genetics (clinical),Genetics

Reference33 articles.

1. GeneMatcher aids in the identification of a new malformation syndrome with intellectual disability, unique facial dysmorphisms, and skeletal and connective tissue abnormalities caused by de novo variants in HNRNPK;Au;Hum. Mutat.,2015

2. Okamoto syndrome has features overlapping with Au-Kline syndrome and is caused by HNRNPK mutation;Okamoto;Am. J. Med. Genet.,2019

3. Deletions of 9q21.3 including NTRK2 are associated with severe phenotype;Hancarova;Am. J. Med. Genet.,2015

4. A second case of Okamoto syndrome caused by HNRNPK mutation;Maystadt;Am. J. Med. Genet.,2020

5. Novel interstitial 2.6 Mb deletion on 9q21 associated with multiple congenital anomalies;Pua;Am. J. Med. Genet.,2014

Cited by 9 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. A new blood DNA methylation signature for Koolen-de Vries syndrome: Classification of missense KANSL1 variants and comparison to fibroblast cells;European Journal of Human Genetics;2024-01-29

2. Peripheral blood DNA methylation and neuroanatomical responses to HDACi treatment that rescues neurological deficits in a Kabuki syndrome mouse model;Clinical Epigenetics;2023-10-27

3. Integrative omics approaches to advance rare disease diagnostics;Journal of Inherited Metabolic Disease;2023-09

4. Germline pathogenic variants in HNRNPU are associated with alterations in blood methylome;European Journal of Human Genetics;2023-07-05

5. Episignature analysis of moderate effects and mosaics;European Journal of Human Genetics;2023-06-26