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2. Variants in LRRC7 lead to intellectual disability, autism, aggression and abnormal eating behaviors

Author

Willim, Jana, Woike, Daniel, Greene, Daniel, Das, Sarada, Pfeifer, Kevin, Yuan, Weimin, Lindsey, Anika, Itani, Omar, Böhme, Amber L., Tibbe, Debora, Hönck, Hans-Hinrich, Hassani Nia, Fatemeh, Zech, Michael, Brunet, Theresa, Faivre, Laurence, Sorlin, Arthur, Vitobello, Antonio, Smol, Thomas, Colson, Cindy, Baranano, Kristin, Schatz, Krista, Bayat, Allan, Schoch, Kelly, Spillmann, Rebecca, Davis, Erica E., Conboy, Erin, Vetrini, Francesco, Platzer, Konrad, Neuser, Sonja, Gburek-Augustat, Janina, Grace, Alexandra Noel, Mitchell, Bailey, Stegmann, Alexander, Sinnema, Margje, Meeks, Naomi, Saunders, Carol, Cadieux-Dion, Maxime, Hoyer, Juliane, Van-Gils, Julien, de Sainte-Agathe, Jean-Madeleine, Thompson, Michelle L., Bebin, E. Martina, Weisz-Hubshman, Monika, Tabet, Anne-Claude, Verloes, Alain, Levy, Jonathan, Latypova, Xenia, Harder, Sönke, Silverman, Gary A., Pak, Stephen C., Schedl, Tim, Freson, Kathleen, Mumford, Andrew, Turro, Ernest, Schlein, Christian, Shashi, Vandana, and Kreienkamp, Hans-Jürgen

Published
2024
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4. Haploinsufficiency of PRR12 causes a spectrum of neurodevelopmental, eye, and multisystem abnormalities

Author

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

Published
2021
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5. Multidisciplinary neurofibromatosis conference in the management of patients with neurofibromatosis type 1 and schwannomatosis in a single tertiary care institution

Author

Debs, Patrick, primary, Belzberg, Allan, additional, Blakeley, Jaishri, additional, Fayad, Laura, additional, Langmead, Shannon, additional, Little, Emily, additional, Romo, Carlos, additional, Schatz, Krista, additional, Slobogean, Bronwyn, additional, and Ahlawat, Shivani, additional

Published
2023
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7. Case Study Contributors

Author

Applegate, Carolyn Dinsmore, Biesecker, Leslie G., Buchanan, Janet A., Carcao, Manuel, Christodoulou, John, Cohn, Iris, Cohn, Ronald Doron, Fahrner, Jill A., Finch, Amy, George-Hyslop, Peter St, Gulati, Ashima, Guthrie, Kelsey, Hamilton, Robert, Hamosh, Ada, Hegele, Robert A., Hitzler, Johann, Hoover-Fong, Julie, Kim, Alexander Y., Kruszka, Paul, Lillicrap, David, Lupski, James R., Mahmud, Farid, Malkin, David, Mallipatna, Ashwin, Martin, Donna, Miller, Kristen, Mu, Weiyi, Narod, Steven, Odame, Isaac, Ours, Christopher A., Pearson, Christopher, Peng, Xiao P., Raraigh, Karen, Rehm, Heidi L., Reuter, Miriam, Roifman, Maian, Roifman, Chaim M., Schatz, Krista, Shoubridge, Eric, Singh, Mandeep, Skuse, David, Thompson, Marisa Gilstrop, Tifft, Cynthia J., Toomey, Christopher B., Vorstman, Jacob A.S., Watnick, Terry J., Weksberg, Rosanna, Wolstencroft, Jeanne, Xiao, Changrui, and Ziegler, Shira G.

Published
2024
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8. The natural history of OTOF-related auditory neuropathy spectrum disorders: a multicenter study

Author

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

Published
2021
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9. Genetic Testing to Inform Epilepsy Treatment Management From an International Study of Clinical Practice

Author

McKnight, Dianalee, Morales, Ana, Hatchell, Kathryn E., Bristow, Sara L., Bonkowsky, Joshua L., Perry, Michael Scott, Berg, Anne T., Borlot, Felippe, Esplin, Edward D., Moretz, Chad, Angione, Katie, Ríos-Pohl, Loreto, Nussbaum, Robert L., Aradhya, Swaroop, Haldeman-Englert, Chad R., Levy, Rebecca J., Parachuri, Venu G., Lay-Son, Guillermo, de Montellano, David J. Dávila-Ortiz, Ramirez-Garcia, Miguel Angel, Benítez Alonso, Edmar O., Ziobro, Julie, Chirita-Emandi, Adela, Felix, Temis M., Kulasa-Luke, Dianne, Megarbane, Andre, Karkare, Shefali, Chagnon, Sarah L., Humberson, Jennifer B., Assaf, Melissa J., Silva, Sebastian, Zarroli, Katherine, Boyarchuk, Oksana, Nelson, Gary R., Palmquist, Rachel, Hammond, Katherine C., Hwang, Sean T., Boutlier, Susan B., Nolan, Melinda, Batley, Kaitlin Y., Chavda, Devraj, Reyes-Silva, Carlos Alberto, Miroshnikov, Oleksandr, Zuccarelli, Britton, Amlie-Wolf, Louise, Wheless, James W., Seinfeld, Syndi, Kanhangad, Manoj, Freeman, Jeremy L., Monroy-Santoyo, Susana, Rodriguez-Vazquez, Natalia, Ryan, Monique M., Machie, Michelle, Guerra, Patricio, Hassan, Muhammad Jawad, Candee, Meghan S., Bupp, Caleb P., Park, Kristen L., Muller, Eric, Lupo, Pamela, Pedersen, Robert C., Arain, Amir M., Murphy, Andrea, Schatz, Krista, Mu, Weiyi, Kalika, Paige M., Plaza, Lautaro, Kellogg, Marissa A., Lora, Evelyn G., Carson, Robert P., Svystilnyk, Victoria, Venegas, Viviana, Luke, Rebecca R., Jiang, Huiyuan, Stetsenko, Tetiana, Dueñas-Roque, Milagros M., Trasmonte, Joseph, Burke, Rebecca J., Hurst, Anna C.E., Smith, Douglas M., Massingham, Lauren J., Pisani, Laura, Costin, Carrie E., Ostrander, Betsy, Filloux, Francis M., Ananth, Amitha L., Mohamed, Ismail S., Nechai, Alla, Dao, Jasmin M., Fahey, Michael C., Aliu, Ermal, Falchek, Stephen, Press, Craig A., Treat, Lauren, Eschbach, Krista, Starks, Angela, Kammeyer, Ryan, Bear, Joshua J., Jacobson, Mona, Chernuha, Veronika, Meibos, Bailey, Wong, Kristen, Sweney, Matthew T., Espinoza, A. Chris, Van Orman, Colin B., Weinstock, Arie, Kumar, Ashutosh, Soler-Alfonso, Claudia, Nolan, Danielle A., Raza, Muhammad, Rojas Carrion, Miguel David, Chari, Geetha, Marsh, Eric D., Shiloh-Malawsky, Yael, Parikh, Sumit, Gonzalez-Giraldo, Ernesto, Fulton, Stephen, Sogawa, Yoshimi, Burns, Kaitlyn, Malets, Myroslava, Montiel Blanco, Johnny David, Habela, Christa W., Wilson, Carey A., Guzmán, Guillermo G., and Pavliuk, Mariia

Abstract

IMPORTANCE: It is currently unknown how often and in which ways a genetic diagnosis given to a patient with epilepsy is associated with clinical management and outcomes. OBJECTIVE: To evaluate how genetic diagnoses in patients with epilepsy are associated with clinical management and outcomes. DESIGN, SETTING, AND PARTICIPANTS: This was a retrospective cross-sectional study of patients referred for multigene panel testing between March 18, 2016, and August 3, 2020, with outcomes reported between May and November 2020. The study setting included a commercial genetic testing laboratory and multicenter clinical practices. Patients with epilepsy, regardless of sociodemographic features, who received a pathogenic/likely pathogenic (P/LP) variant were included in the study. Case report forms were completed by all health care professionals. EXPOSURES: Genetic test results. MAIN OUTCOMES AND MEASURES: Clinical management changes after a genetic diagnosis (ie, 1 P/LP variant in autosomal dominant and X-linked diseases; 2 P/LP variants in autosomal recessive diseases) and subsequent patient outcomes as reported by health care professionals on case report forms. RESULTS: Among 418 patients, median (IQR) age at the time of testing was 4 (1-10) years, with an age range of 0 to 52 years, and 53.8% (n = 225) were female individuals. The mean (SD) time from a genetic test order to case report form completion was 595 (368) days (range, 27-1673 days). A genetic diagnosis was associated with changes in clinical management for 208 patients (49.8%) and usually (81.7% of the time) within 3 months of receiving the result. The most common clinical management changes were the addition of a new medication (78 [21.7%]), the initiation of medication (51 [14.2%]), the referral of a patient to a specialist (48 [13.4%]), vigilance for subclinical or extraneurological disease features (46 [12.8%]), and the cessation of a medication (42 [11.7%]). Among 167 patients with follow-up clinical information available (mean [SD] time, 584 [365] days), 125 (74.9%) reported positive outcomes, 108 (64.7%) reported reduction or elimination of seizures, 37 (22.2%) had decreases in the severity of other clinical signs, and 11 (6.6%) had reduced medication adverse effects. A few patients reported worsening of outcomes, including a decline in their condition (20 [12.0%]), increased seizure frequency (6 [3.6%]), and adverse medication effects (3 [1.8%]). No clinical management changes were reported for 178 patients (42.6%). CONCLUSIONS AND RELEVANCE: Results of this cross-sectional study suggest that genetic testing of individuals with epilepsy may be materially associated with clinical decision-making and improved patient outcomes.

Published
2022
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11. De novo mutations in the X-linked TFE3 gene cause intellectual disability with pigmentary mosaicism and storage disorder-like features

Author

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

Published
2020
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13. Genetic variants in the KDM6B gene are associated with neurodevelopmental delays and dysmorphic features

Author

Stolerman, Elliot S., primary, Francisco, Elizabeth, additional, Stallworth, Jennifer L., additional, Jones, Julie R., additional, Monaghan, Kristin G., additional, Keller‐Ramey, Jennifer, additional, Person, Richard, additional, Wentzensen, Ingrid M., additional, McWalter, Kirsty, additional, Keren, Boris, additional, Heron, Benedicte, additional, Nava, Caroline, additional, Heron, Delphine, additional, Kim, Katherine, additional, Burton, Barbara, additional, Al‐Musafri, Fatima, additional, O'Grady, Lauren, additional, Sahai, Inderneel, additional, Escobar, Luis F., additional, Meuwissen, Marije, additional, Reyniers, Edwin, additional, Kooy, Frank, additional, Lacassie, Yves, additional, Gunay‐Aygun, Meral, additional, Schatz, Krista Sondergaard, additional, Hochstenbach, Ron, additional, Zwijnenburg, Petra J.G., additional, Waisfisz, Quinten, additional, Slegtenhorst, Marjon, additional, Mancini, Grazia M.S., additional, and Louie, Raymond J., additional

Published
2019
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16. Haploinsufficiency of PRR12causes a spectrum of neurodevelopmental, eye, and multisystem abnormalities

Author

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

Abstract

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 haploinsufficiency.

Published
2021
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17. De novomutations in the X-linked TFE3gene cause intellectual disability with pigmentary mosaicism and storage disorder-like features

Author

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

Abstract

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 signalling in embryonic stem cell differentiation, mutations in the X-linked transcription factor 3 (TFE3) have recently been reported in five patients. Functional analysis suggested these mutations to result in ectopic nuclear gain of functions.Materials and methodsSubsequent data sharing allowed the clustering of de novo TFE3variants identified by exome sequencing on DNA extracted from leucocytes in patients referred for syndromic ID with or without PM.ResultsWe describe the detailed clinical and molecular data of 17 individuals harbouring a de novo TFE3variant, including the patients that initially allowed reporting TFE3as a new disease-causing gene. The 12 females and 5 males presented with pigmentation anomalies on Blaschko’s lines, severe ID, epilepsy, storage disorder-like features, growth retardation and recognisable facial dysmorphism. The variant was at a mosaic state in at least two male patients. All variants were missense except one splice variant. Eleven of the 13 variants were localised in exon 4, 2 in exon 3, and 3 were recurrent variants.ConclusionThis series further delineates the specific storage disorder-like phenotype with PM ascribed to de novo TFE3mutation in exons 3 and 4. It confirms the identification of a novel X-linked human condition associated with mosaicism and dysregulation within the mechanistic target of rapamycin (mTOR) pathway, as well as a link between lysosomal signalling and human development.

Published
2020
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18. Xia-Gibbs syndrome in adulthood: a case report with insight into the natural history of the condition.

Author

Murdock DR, Jiang Y, Wangler M, Khayat MM, Sabo A, Juusola J, McWalter K, Schatz KS, Gunay-Aygun M, and Gibbs RA

Subjects
Abnormalities, Multiple diagnosis, Abnormalities, Multiple pathology, Heterozygote, Humans, Intellectual Disability diagnosis, Intellectual Disability pathology, Male, Middle Aged, Abnormalities, Multiple genetics, Intellectual Disability genetics, Exome Sequencing
Abstract

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 were all negative. Subsequent whole-exome sequencing revealed a heterozygous, truncating variant in the AHDC1 gene, consistent with a diagnosis of Xia-Gibbs syndrome (XGS). Review of his clinical history showed many classic dysmorphic and clinical features of XGS, but no major health issues in adulthood other than intellectual disability. This individual is the oldest published XGS case to date, demonstrates the wide phenotypic spectrum of the disorder, and provides information on the condition's natural history. As more adults undergo genomic studies, we will continue to learn about the adult phenotypes of genetic conditions typically diagnosed in the pediatric setting., (© 2019 Murdock et al.; Published by Cold Spring Harbor Laboratory Press.)

Published
2019
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