Haploinsufficiency of PRR12 causes a spectrum of neurodevelopmental, eye, and multisystem abnormalities

Autor: Tugce B. Balci, Paul R. Mark, Sedlácek Z, Krista Sondergaard Schatz, Tadashi Kaname, Christiane Zweier, Hidenori Ohnishi, Ingrid M. Wentzensen, Solveig Heide, Weimin Bi, A. Baxova, Antje Wiesener, Nancy J. Cox, Devon Haynes, David Rodriguez-Buritica, Sarka Bendova, Nobuhiko Okamoto, Tomoko Uehara, Oana Caluseriu, Koichi Kawakami, Victoria Mok Siu, Alfredo Brusco, Boris Keren, Jennifer M. Lemons, David J. Amor, Patrick Rump, Marie T. McDonald, George E. Hoganson, Miroslava Hancarova, Gina M. Morley, Maria A. Magriña, Sarah Montgomery, Lei Wang, Seema R. Lalani, Kazuo Kubota, Mohammed Al-raqad, Patricia G Wheeler, Haley Streff, Fuad Chowdhury, Elisa Biamino, Meral Gunay-Aygun, Tawfiq Froukh, Kenjiro Kosaki, Jagdeep S. Walia

Publikováno v: Paediatrics Publications
Genetics in Medicine, 23(7), 1234-1245. Nature Publishing Group

Purpose: Proline Rich 12 (PRR12) is a gene of unknown function with suspected DNA-binding activity, expressed in developing mice and human brains. Predicted loss-of-function variants in this gene are extremely rare, indicating high intolerance of hap

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0cc7d41479fd086aa1b57e144767789f
https://doi.org/10.1038/s41436-021-01129-6

The natural history of OTOF-related auditory neuropathy spectrum disorders: a multicenter study

Autor: B Robert Peters, Peina Wu, Ryan K Thorpe, Kenny H. Chan, Richard J.H. Smith, Qiuju Wang, G. Bradley Schaefer, Yoel Hirsch, Pu Dai, Lei Xu, Tao Yang, Huijun Yuan, Nathaniel H. Robin, Krista Sondergaard Schatz, Joann Bodurtha, Hela Azaiez, Zuhair Abdalla Rahbeeni

Publikováno v: Hum Genet

OBJECTIVE: To refine the natural history and genotype-phenotype correlations of OTOF-related auditory neuropathy spectrum disorders (ANSD) through the analysis of audiograms and distortion product otoacoustic emissions (DPOAEs) in a diverse cohort of

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ade0b1b287a85bb4b613bf75112d52fa
https://europepmc.org/articles/PMC9093589/

De novo mutations in the X-linked TFE3 gene cause intellectual disability with pigmentary mosaicism and storage disorder-like features

Autor: Bertrand Isidor, Rami Abou Jamra, Virginie Carmignac, Yannis Duffourd, Helio Pedro, Eriko Koshimizu, Maja Hempel, Tobias Bartolomaeus, Martin Chevarin, Floor A. M. Duijkers, Maria J. Guillen Sacoto, Erin Torti, David Geneviève, David J. Harris, Valerie Loik Ramey, Klaske D. Lichtenbelt, Arthur Sorlin, Miriam Maik, Anne Guimier, Paul Kuentz, Tatjana Bierhals, Orly Elpeleg, Yoshiko Murakami, Laurence Faivre, Jean Baptiste Rivière, Jill Clayton-Smith, Laurent Pasquier, Yuichi Abe, Edgard Verdura, Aviva Fattal, Judith St-Onge, Daphné Lehalle, Joerg Betschinger, Krista Sondergaard-Schatz, Laurie Simone, Christa W. Habela, Ivon Cusco, Mieke M. van Haelst, Pierre Vabres, Laurence Duplomb, Magali Avila, Sakoto Miyakate, Koen L.I. van Gassen, Julien Thevenon, Eveline S. J. M. de Bont, Benjamin Cogné, Pia Zacher, Silvana van Koningsbruggen, Thibaud Jouan, Irene Valenzuela, Christel Thauvin-Robinet

Publikováno v: Journal of Medical Genetics
Journal of Medical Genetics, 2020, 57 (12), pp.808-819. ⟨10.1136/jmedgenet-2019-106508⟩
Journal of medical genetics, 57(12):106508, 808-819. BMJ Publishing Group
Lehalle, D, Vabres, P, Sorlin, A, Bierhals, T, Avila, M, Carmignac, V, Chevarin, M, Torti, E, Abe, Y, Bartolomaeus, T, Clayton-Smith, J, Cogné, B, Cusco, I, Duplomb, L, De Bont, E, Duffourd, Y, Duijkers, F, Elpeleg, O, Fattal, A, Geneviève, D, Guillen Sacoto, M J, Guimier, A, Harris, D J, Hempel, M, Isidor, B, Jouan, T, Kuentz, P, Koshimizu, E, Lichtenbelt, K, Loik Ramey, V, Maik, M, Miyakate, S, Murakami, Y, Pasquier, L, Pedro, H, Simone, L, Sondergaard-Schatz, K, St-Onge, J, Thevenon, J, Valenzuela, I, Abou Jamra, R, Van Gassen, K, Van Haelst, M M, Van Koningsbruggen, S, Verdura, E, Whelan Habela, C, Zacher, P, Rivière, J B, Thauvin-Robinet, C, Betschinger, J & Faivre, L 2020, ' De novo mutations in the X-linked TFE3 gene cause intellectual disability with pigmentary mosaicism and storage disorder-like features ', Journal of Medical Genetics, vol. 57, no. 12, 106508, pp. 808-819 . https://doi.org/10.1136/jmedgenet-2019-106508
Journal of Medical Genetics, 57(12):106508, 808-819. BMJ Publishing Group

IntroductionPigmentary mosaicism (PM) manifests by pigmentation anomalies along Blaschko’s lines and represents a clue toward the molecular diagnosis of syndromic intellectual disability (ID). Together with new insights on the role for lysosomal si

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d0225469b6c5302fe6a000a5d82d85eb
https://doi.org/10.1136/jmedgenet-2019-106508

Xia-Gibbs syndrome in adulthood: a case report with insight into the natural history of the condition

Autor: Krista Sondergaard Schatz, Michael M. Khayat, Jane Juusola, Yunyun Jiang, Meral Gunay-Aygun, Michael F. Wangler, Aniko Sabo, Richard A. Gibbs, Kirsty McWalter, David R. Murdock

Publikováno v: Cold Spring Harbor Molecular Case Studies

A 55-yr-old male with severe intellectual disability, behavioral problems, kyphoscoliosis, and dysmorphic features was referred for a genetic evaluation. Chromosomal microarray, RASopathy gene panel, mitochondrial sequencing, and fragile X testing we

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3505c4fe7bb797f621cc9f6299b856fd
https://pubmed.ncbi.nlm.nih.gov/30622101