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Select item 96316941.

A gain-of-function variant in the Wiskott-Aldrich syndrome gene is associated with a MYH9-related disease-like syndrome

David Marx, Arnaud Dupuis, Anita Eckly, Anne Molitor, Jérôme Olagne, Guy Touchard, Sihem Kaaki, Cécile Ory, Anne-Laure Faller, Bénédicte Gérard, Melanie Cotter, Lisa Westerberg, Marton Keszei, Bruno Moulin, Christian Gachet, Sophie Caillard, Seiamak Bahram, Raphaël Carapito

Blood Adv. 2022 Sep 27; 6(18): 5279–5284. Published online 2022 Sep 19. doi: 10.1182/bloodadvances.2021006789

PMCID:: PMC9631694

Abstract Article PDF–1.3M

Select item 95447312.

The MAP3K7 gene: Further delineation of clinical characteristics and genotype/phenotype correlations

Geeske M. van Woerden, Richelle Senden, Charlotte de Konink, Rossella A. Trezza, Anwar Baban, Jennifer A. Bassetti, Yolande van Bever, Lynne M. Bird, Bregje W. van Bon, Alice S. Brooks, Qiaoning Guan, Eric W. Klee, Carlo Marcelis, Joel M. Rosado, Lisa A. Schimmenti, Amy R. Shikany, Paulien A. Terhal, Kathryn Nicole Weaver, Marja W. Wessels, Hester van Wieringen, Anna C. Hurst, Catherine F. Gooch, Katharina Steindl, Pascal Joset, Anita Rauch, Marco Tartaglia, Marcello Niceta, Ype Elgersma, Serwet Demirdas

Hum Mutat. 2022 Oct; 43(10): 1377–1395. Published online 2022 Jul 29. doi: 10.1002/humu.24425

PMCID:: PMC9544731

Abstract Article PDF–2.5M

Select item 95496773.

Delay in diagnosing a patient with mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome who presented with status epilepticus and lactic acidosis: a case report

Ahmad F. Alenezi, Mariam A. Almelahi, Feten Fekih-Romdhana, Haitham A. Jahrami

J Med Case Rep. 2022; 16: 361. Published online 2022 Oct 10. doi: 10.1186/s13256-022-03613-2

PMCID:: PMC9549677

Abstract Article PDF–919K

Select item 95507624.

Obsessive–compulsive symptoms in ACTG1-associated Baraitser-Winter cerebrofrontofacial syndrome

Theresa Göbel, Lea Berninger, Andrea Schlump, Bernd Feige, Kimon Runge, Kathrin Nickel, Miriam A. Schiele, Ludger Tebartz van Elst, Alrun Hotz, Svenja Alter, Katharina Domschke, Andreas Tzschach, Dominique Endres

J Neural Transm (Vienna) 2022; 129(11): 1387–1391. Published online 2022 Oct 7. doi: 10.1007/s00702-022-02544-y

PMCID:: PMC9550762

Abstract Article PDF–826K

Select item 95511335.

Identification of novel compound heterozygous mutations of the MYO15A gene with autosomal recessive non‐syndromic hearing loss

Luming Wang, Yue Zhang, Qiuxia Xue, Pinghua Huang, Xiaodan Liu

J Clin Lab Anal. 2022 Oct; 36(10): e24653. Published online 2022 Aug 10. doi: 10.1002/jcla.24653

PMCID:: PMC9551133

Abstract Article PDF–5.2M

Select item 95563596.

Usher syndrome type IV: clinically and molecularly confirmed by novel ARSG variants

Hedwig M. Velde, Janine Reurink, Sebastian Held, Catherina H. Z. Li, Suzanne Yzer, Jaap Oostrik, Jack Weeda, Lonneke Haer-Wigman, Helger G. Yntema, Susanne Roosing, Laurenz Pauleikhoff, Clemens Lange, Laura Whelan, Adrian Dockery, Julia Zhu, David J. Keegan, G. Jane Farrar, Hannie Kremer, Cornelis P. Lanting, Markus Damme, Ronald J. E. Pennings

Hum Genet. 2022; 141(11): 1723–1738. Published online 2022 Feb 28. doi: 10.1007/s00439-022-02441-0

PMCID:: PMC9556359

Abstract Article PDF–1.1M

Select item 95694997.

Characterization of Two Mouse Chd7 Heterozygous Loss-of-Function Models Shows Dysgenesis of the Corpus Callosum and Previously Unreported Features of CHARGE Syndrome

Stephan C. Collins, Valerie E. Vancollie, Anna Mikhaleva, Christel Wagner, Rebecca Balz, Christopher J. Lelliott, Binnaz Yalcin

Int J Mol Sci. 2022 Oct; 23(19): 11509. Published online 2022 Sep 29. doi: 10.3390/ijms231911509

PMCID:: PMC9569499

Abstract Article PDF–1.7M

Select item 95695118.

New CRISPR Tools to Correct Pathogenic Mutations in Usher Syndrome

Lauren Major, Michelle E. McClements, Robert E. MacLaren

Int J Mol Sci. 2022 Oct; 23(19): 11669. Published online 2022 Oct 1. doi: 10.3390/ijms231911669

PMCID:: PMC9569511

Abstract Article PDF–2.0M

Select item 95763049.

The Phenotypic Continuum of ATP1A3-Related Disorders

Aikaterini Vezyroglou, Rhoda Akilapa, Katy Barwick, Saskia Koene, Catherine A. Brownstein, Muriel Holder-Espinasse, Andrew E. Fry, Andrea H. Németh, George K. Tofaris, Eleanor Hay, Imelda Hughes, Sahar Mansour, Santosh R. Mordekar, Miranda Splitt, Peter D. Turnpenny, Demetria Demetriou, Tamara T. Koopmann, Claudia A.L. Ruivenkamp, Pankaj B. Agrawal, Lucinda Carr, Virginia Clowes, Neeti Ghali, Susan Elizabeth Holder, Jessica Radley, Alison Male, Sanjay M. Sisodiya, Manju A. Kurian, J. Helen Cross, Meena Balasubramanian

Neurology. 2022 Oct 4; 99(14): e1511–e1526. doi: 10.1212/WNL.0000000000200927

PMCID:: PMC9576304

Abstract Article PDF–703K

Select item 958314610.

NLRP3 inflammasome and NLRP3-related autoinflammatory diseases: From cryopyrin function to targeted therapies

Chiara Moltrasio, Maurizio Romagnuolo, Angelo Valerio Marzano

Front Immunol. 2022; 13: 1007705. Published online 2022 Oct 6. doi: 10.3389/fimmu.2022.1007705

PMCID:: PMC9583146

Abstract Article PDF–1.3M

Select item 959012311.

A likely pathogenic POLD1 variant associated with mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome in a Chinese patient

Bin Zuo, Hongen Xu, Zhaoyu Pan, Lu Mao, Haifeng Feng, Beiping Zeng, Wenxue Tang, Wei Lu

BMC Med Genomics. 2022; 15: 220. Published online 2022 Oct 21. doi: 10.1186/s12920-022-01374-x

PMCID:: PMC9590123

Abstract Article PDF–949K

Select item 959255512.

Molecular diagnose of a large hearing loss population from China by targeted genome sequencing

Jie Wu, Zongfu Cao, Yu Su, Yang Wang, Ruikun Cai, Jiyue Chen, Bo Gao, Mingyu Han, Xiaohong Li, DeJun Zhang, Xue Gao, Shasha Huang, Quanfei Huang, Yongyi Yuan, Xu Ma, Pu Dai

J Hum Genet. 2022; 67(11): 643–649. Published online 2022 Aug 19. doi: 10.1038/s10038-022-01066-5

PMCID:: PMC9592555

Abstract Article PDF–902K

Select item 960235813.

Mitochondrial tRNA^Gln 4394C>T Mutation May Contribute to the Clinical Expression of 1555A>G-Induced Deafness

Yu Ding, Yaoshu Teng, Qinxian Guo, Jianhang Leng

Genes (Basel) 2022 Oct; 13(10): 1794. Published online 2022 Oct 5. doi: 10.3390/genes13101794

PMCID:: PMC9602358

Abstract Article PDF–6.7M

Select item 960426714.

Diagnostic Odyssey in an Adult Patient with Ophthalmologic Abnormalities and Hearing Loss: Contribution of RNA-Seq to the Diagnosis of a PEX1 Deficiency

Gerard Muñoz-Pujol, Socorro Alforja-Castiella, Ricardo Casaroli-Marano, Blai Morales-Romero, Judit García-Villoria, Vicente A. Yépez, Julien Gagneur, Mirjana Gusic, Holger Prokisch, Frederic Tort, Antonia Ribes

Int J Mol Sci. 2022 Oct; 23(20): 12367. Published online 2022 Oct 15. doi: 10.3390/ijms232012367

PMCID:: PMC9604267

Abstract Article PDF–2.6M

Select item 962262415.

Prenatal diagnosis and genetic analysis of a fetus with Branchio-oto-renal syndrome: A case report

Ping Tang, Jiarui Li, Jun Li, Juan Yang, Jianjun Zhu

Medicine (Baltimore) 2022 Oct 28; 101(43): e31172. Published online 2022 Oct 28. doi: 10.1097/MD.0000000000031172

PMCID:: PMC9622624

Abstract Article PDF–615K

Select item 962906116.

OSBPL2 mutations impair autophagy and lead to hearing loss, potentially remedied by rapamycin

Young Ik Koh, Kyung Seok Oh, Jung Ah Kim, Byunghwa Noh, Hye Ji Choi, Sun Young Joo, John Hoon Rim, Hye-Youn Kim, Dong Yun Kim, Seyoung Yu, Da Hye Kim, Sang-Guk Lee, Jinsei Jung, Jae Young Choi, Heon Yung Gee

Autophagy. 2022; 18(11): 2593–2614. Published online 2022 Mar 6. doi: 10.1080/15548627.2022.2040891