EIF3F-related neurodevelopmental disorder: refining the phenotypic and expanding the molecular spectrum

Autor: Ulrike Hüffmeier, Cornelia Kraus, Miriam S. Reuter, Steffen Uebe, Mary-Alice Abbott, Syed A. Ahmed, Kristyn L. Rawson, Eileen Barr, Hong Li, Ange-Line Bruel, Laurence Faivre, Frédéric Tran Mau-Them, Christina Botti, Susan Brooks, Kaitlyn Burns, D. Isum Ward, Marina Dutra-Clarke, Julian A. Martinez-Agosto, Hane Lee, Stanley F. Nelson, UCLA California Center for Rare Disease, Pia Zacher, Rami Abou Jamra, Chiara Klöckner, Julie McGaughran, Jürgen Kohlhase, Sarah Schuhmann, Ellen Moran, John Pappas, Annick Raas-Rothschild, Maria J. Guillen Sacoto, Lindsay B. Henderson, Timothy Blake Palculict, Sureni V. Mullegama, Houda Zghal Elloumi, Adi Reich, Samantha A. Schrier Vergano, Erica Wahl, André Reis, Christiane Zweier

Publikováno v: Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-9 (2021)

Abstract Background An identical homozygous missense variant in EIF3F, identified through a large-scale genome-wide sequencing approach, was reported as causative in nine individuals with a neurodevelopmental disorder, characterized by variable intel

Externí odkaz: https://doaj.org/article/8bc14e835d25412b97b23f80259be0cf

Heterozygous pathogenic variants involving CBFB cause a new skeletal disorder resembling cleidocranial dysplasia

Autor: Tessi Beyltjens, Eveline Boudin, Nicole Revencu, Nele Boeckx, Miriam Bertrand, Leon Schütz, Tobias B Haack, Axel Weber, Eleni Biliouri, Mateja Vinkšel, Anja Zagožen, Borut Peterlin, Shashidhar Pai, Aida Telegrafi, Lindsay B Henderson, Courtney Ells, Lesley Turner, Wim Wuyts, Wim Van Hul, Gretl Hendrickx, Geert R Mortier

Publikováno v: Journal of medical genetics

BackgroundCleidocranial dysplasia (CCD) is a rare skeletal dysplasia with significant clinical variability. Patients with CCD typically present with delayed closure of fontanels and cranial sutures, dental anomalies, clavicular hypoplasia or aplasia

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1df74a3a7a2a5e800f3c1adaa481a1c2
https://lirias.kuleuven.be/handle/20.500.12942/704975

The clinical and genetic spectrum of autosomal-recessive TOR1A-related disorders

Autor: Afshin Saffari, Tracy Lau, Homa Tajsharghi, Ehsan Ghayoor Karimiani, Ariana Kariminejad, Stephanie Efthymiou, Giovanni Zifarelli, Tipu Sultan, Mehran Beiraghi Toosi, Sahar Sedighzadeh, Victoria Mok Siu, Juan Darío Ortigoza-Escobar, Aisha M AlShamsi, Shahnaz Ibrahim, Nouriya Abbas Al-Sannaa, Walla Al-Hertani, Whalen Sandra, Mark Tarnopolsky, Shahryar Alavi, Chumei Li, Debra-Lynn Day-Salvatore, Maria Jesús Martínez-González, Kristin M Levandoski, Emma Bedoukian, Suneeta Madan-Khetarpal, Michaela J Idleburg, Minal Juliet Menezes, Aishwarya Siddharth, Konrad Platzer, Henry Oppermann, Martin Smitka, Felicity Collins, Monkol Lek, Mohmmad Shahrooei, Maryam Ghavideldarestani, Isabella Herman, John Rendu, Julien Faure, Janice Baker, Vikas Bhambhani, Laurel Calderwood, Javad Akhondian, Shima Imannezhad, Hanieh Sadat Mirzadeh, Narges Hashemi, Mohammad Doosti, Mojtaba Safi, Najmeh Ahangari, Paria Najarzadeh Torbati, Soheila Abedini, Vincenzo Salpietro, Elif Yilmaz Gulec, Safieh Eshaghian, Mohammadreza Ghazavi, Michael T Pascher, Marina Vogel, Angela Abicht, Sébastien Moutton, Ange-Line Bruel, Claudine Rieubland, Sabina Gallati, Tim M Strom, Hanns Lochmüller, Mohammad Hasan Mohammadi, Javeria Raza Alvi, Elaine H Zackai, Beth A Keena, Cara M Skraban, Seth I Berger, Erin H Andrew, Elham Rahimian, Michelle M Morrow, Ingrid M Wentzensen, Francisca Millan, Lindsay B Henderson, Hormos Salimi Dafsari, Heinz Jungbluth, Natalia Gomez-Ospina, Anne McRae, Merlene Peter, Danai Veltra, Nikolaos M Marinakis, Christalena Sofocleous, Farah Ashrafzadeh, Davut Pehlivan, Johannes R Lemke, Judith Melki, Audrey Benezit, Peter Bauer, Denisa Weis, James R Lupski, Jan Senderek, John Christodoulou, Wendy K Chung, Rose Goodchild, Amaka C Offiah, Andres Moreno-De-Luca, Mohnish Suri, Darius Ebrahimi-Fakhari, Henry Houlden, Reza Maroofian

Publikováno v: Saffari, Afshin; Lau, Tracy; Tajsharghi, Homa; Karimiani, Ehsan Ghayoor; Kariminejad, Ariana; Efthymiou, Stephanie; Zifarelli, Giovanni; Sultan, Tipu; Toosi, Mehran Beiraghi; Sedighzadeh, Sahar; Siu, Victoria Mok; Ortigoza-Escobar, Juan Darío; AlShamsi, Aisha M; Ibrahim, Shahnaz; Al-Sannaa, Nouriya Abbas; Al-Hertani, Walla; Sandra, Whalen; Tarnopolsky, Mark; Alavi, Shahryar; Li, Chumei; ... (2023). The clinical and genetic spectrum of autosomal-recessive TOR1A-related disorders. (In Press). Brain : a journal of neurology Oxford University Press 10.1093/brain/awad039

In the field of rare diseases, progress in molecular diagnostics led to the recognition that variants linked to autosomal-dominant neurodegenerative diseases of later onset can, in the context of biallelic inheritance, cause devastating neurodevelopm

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3b06949eaa976668e979bbd3a670e289
http://urn.kb.se/resolve?urn=urn:nbn:se:his:diva-22889

Haploinsufficiency of POU4F1 causes an ataxia syndrome with hypotonia and intention tremor

Autor: Sumit Parikh, Yue Si, Lynne M. Bird, Eric E. Schadt, Lindsay B. Henderson, Patricia G. Wheeler, Thomas P. Naidich, Peter Hung, Kristen J. Brennand, Bryn D. Webb, Francisca Millan, Meilin Fernandez Garcia, Janet C. Rucker, Anthony Evans

Publikováno v: Hum Mutat

De novo, heterozygous, loss of function variants were identified in Pou domain, class 4, transcription factor 1 (POU4F1) via whole exome sequencing in four independent probands presenting with ataxia, intention tremor, and hypotonia. POU4F1 is expres

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1c9ec4c1e65b7e189679d931ca04a7ba
https://doi.org/10.1002/humu.24201

Heterozygous pathogenic variants involving

Autor: Tessi, Beyltjens, Eveline, Boudin, Nicole, Revencu, Nele, Boeckx, Miriam, Bertrand, Leon, Schütz, Tobias B, Haack, Axel, Weber, Eleni, Biliouri, Mateja, Vinkšel, Anja, Zagožen, Borut, Peterlin, Shashidhar, Pai, Aida, Telegrafi, Lindsay B, Henderson, Courtney, Ells, Lesley, Turner, Wim, Wuyts, Wim, Van Hul, Gretl, Hendrickx, Geert R, Mortier

Publikováno v: Journal of medical genetics.

Cleidocranial dysplasia (CCD) is a rare skeletal dysplasia with significant clinical variability. Patients with CCD typically present with delayed closure of fontanels and cranial sutures, dental anomalies, clavicular hypoplasia or aplasia and short

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::8a12df858903a6ee5cc68595bf70993d
https://pubmed.ncbi.nlm.nih.gov/36241386