Expanding the clinical spectrum of biglycan-related Meester-Loeys syndrome

Autor: Josephina A. N. Meester, Anne Hebert, Maaike Bastiaansen, Laura Rabaut, Jarl Bastianen, Nele Boeckx, Kathryn Ashcroft, Paldeep S. Atwal, Antoine Benichou, Clarisse Billon, Jan D. Blankensteijn, Paul Brennan, Stephanie A. Bucks, Ian M. Campbell, Solène Conrad, Stephanie L. Curtis, Majed Dasouki, Carolyn L. Dent, James Eden, Himanshu Goel, Verity Hartill, Arjan C. Houweling, Bertrand Isidor, Nicola Jackson, Pieter Koopman, Anita Korpioja, Minna Kraatari-Tiri, Liina Kuulavainen, Kelvin Lee, Karen J. Low, Alan C. Lu, Morgan L. McManus, Stephen P. Oakley, James Oliver, Nicole M. Organ, Eline Overwater, Nicole Revencu, Alison H. Trainer, Bhavya Trivedi, Claire L. S. Turner, Rebecca Whittington, Andreas Zankl, Dominica Zentner, Lut Van Laer, Aline Verstraeten, Bart L. Loeys

Publikováno v: npj Genomic Medicine, Vol 9, Iss 1, Pp 1-9 (2024)

Abstract Pathogenic loss-of-function variants in BGN, an X-linked gene encoding biglycan, are associated with Meester-Loeys syndrome (MRLS), a thoracic aortic aneurysm/dissection syndrome. Since the initial publication of five probands in 2017, we ha

Externí odkaz: https://doaj.org/article/59c29ea90e714804ab5f4038f2662271

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

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

Publikováno v: AM J HUM GENET
r-ISABIAL. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica y Sanitaria de Alicante
instname

Au-Kline syndrome (AKS) is a neurodevelopmental disorder associated with multiple malformations and a characteristic facial gestalt. The first individuals ascertained carried de novo loss-of-function (LoF) variants in HNRNPK. Here, we report 32 indiv

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7ba1707a022519a64f5aad1953051153
https://lirias.kuleuven.be/handle/20.500.12942/704570

ATM c.7570GC is a high-risk allele for breast cancer

Autor: Minna Kankuri‐Tammilehto, Anna Tervasmäki, Minna Kraatari‐Tiri, Elisa Rahikkala, Katri Pylkäs, Outi Kuismin

Publikováno v: International journal of cancerREFERENCES. 152(3)

ATM is generally described as a moderate-risk breast cancer susceptibility gene. However, some of ATM variants might encounter higher risk. ATM c.7570GC, p.Ala2524Pro, (rs769142993) is a pathogenic Finnish founder variant causative for recessively in

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3249ab08cbc5d63a76651d7ebb02c4cc
https://pubmed.ncbi.nlm.nih.gov/36161273

Clinical and Genetic Characteristics of Finnish Patients with Autosomal Recessive and Dominant Non-Syndromic Hearing Loss Due to Pathogenic

Autor: Minna, Kraatari-Tiri, Maria K, Haanpää, Tytti, Willberg, Pia, Pohjola, Riikka, Keski-Filppula, Outi, Kuismin, Jukka S, Moilanen, Sanna, Häkli, Elisa, Rahikkala

Publikováno v: Journal of clinical medicine. 11(7)

Sensorineural hearing loss (SNHL) is one of the most common sensory deficits worldwide, and genetic factors contribute to at least 50-60% of the congenital hearing loss cases. The transmembrane channel-like protein 1 (

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::698bbbcbb8e6ea2bdeab450608042e38
https://pubmed.ncbi.nlm.nih.gov/35407445

Herpes simplex virus 2 encephalitis in a patient heterozygous for a TLR3 mutation

Autor: Terhi Partanen, Outi Kuismin, Minna Kraatari, Pirjo Åström, Laura Tervonen, Usko Huuskonen, Timo Hautala, Lazaro Lorenzo, Mikko Seppänen, Satu Winqvist, Jie Chen, Janna Saarela, Jean-Laurent Casanova, Tytti Vuorinen, Johanna Lehtonen, Shen-Ying Zhang, Virpi Glumoff

Publikováno v: Neurology: Genetics
article-version (Version of Record) 3

Susceptibility to herpes simplex virus type 1 (HSV-1) encephalitis (HSE-1) in otherwise healthy individuals, in the course of primary infection, can be caused by single-gene inborn errors of Toll-like receptor 3 (TLR3) dependent, interferon (IFN)-alp

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b768d3786038d732252fa11ac4c5367e
http://hdl.handle.net/10852/83569