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Select item 59654031.

A homozygous missense mutation in ERAL1, encoding a mitochondrial rRNA chaperone, causes Perrault syndrome

Iliana A. Chatzispyrou, Marielle Alders, Sergio Guerrero-Castillo, Ruben Zapata Perez, Martin A. Haagmans, Laurent Mouchiroud, Janet Koster, Rob Ofman, Frank Baas, Hans R. Waterham, Johannes N. Spelbrink, Johan Auwerx, Marcel M. Mannens, Riekelt H. Houtkooper, Astrid S. Plomp

Hum Mol Genet. 2017 Jul 1; 26(13): 2541–2550. Published online 2017 Apr 25. doi: 10.1093/hmg/ddx152

PMCID:: PMC5965403

Abstract Article PDF–729K

Select item 55682662.

A homozygous missense variant in HSD17B4 identified in a consanguineous Chinese Han family with type II Perrault syndrome

Kui Chen, Ke Yang, Su-Shan Luo, Chen Chen, Ying Wang, Yi-Xuan Wang, Da-Ke Li, Yu-Jie Yang, Yi-Lin Tang, Feng-Tao Liu, Jian Wang, Jian-Jun Wu, Yi-Min Sun

BMC Med Genet. 2017; 18: 91. Published online 2017 Aug 23. doi: 10.1186/s12881-017-0453-0

PMCID:: PMC5568266

Abstract Article PDF–1.2M

Select item 52996843.

Novel neuro-audiological findings and further evidence for TWNK involvement in Perrault syndrome

Monika Ołdak, Dominika Oziębło, Agnieszka Pollak, Iwona Stępniak, Michal Lazniewski, Urszula Lechowicz, Krzysztof Kochanek, Mariusz Furmanek, Grażyna Tacikowska, Dariusz Plewczynski, Tomasz Wolak, Rafał Płoski, Henryk Skarżyński

J Transl Med. 2017; 15: 25. Published online 2017 Feb 8. doi: 10.1186/s12967-017-1129-4

PMCID:: PMC5299684

Abstract Article PDF–3.4M

Select item 52728054.

Mutations of SGO2 and CLDN14 collectively cause coincidental Perrault syndrome

Rabia Faridi, Atteeq U. Rehman, Robert J. Morell, Penelope L. Friedman, Leigh Demain, Sana Zahra, Asma Ali Khan, Dalia Tohlob, Muhammad Zaman Assir, Glenda Beaman, Shaheen N. Khan, William G. Newman, Sheikh Riazuddin, Thomas B. Friedman

Clin Genet. Author manuscript; available in PMC 2018 Feb 1.

Published in final edited form as: Clin Genet. 2017 Feb; 91(2): 328–332. Published online 2016 Nov 16. doi: 10.1111/cge.12867

PMCID:: PMC5272805

Abstract Article PDF–583K

Select item 52642215.

The clinical, biochemical and genetic features associated with RMND1-related mitochondrial disease

Yi Shiau Ng, Charlotte L Alston, Daria Diodato, Andrew A Morris, Nicole Ulrick, Stanislav Kmoch, Josef Houštěk, Diego Martinelli, Alireza Haghighi, Mehnaz Atiq, Montserrat Anton Gamero, Elena Garcia-Martinez, Hana Kratochvílová, Saikat Santra, Ruth M Brown, Garry K Brown, Nicola Ragge, Ahmad Monavari, Karen Pysden, Kirstine Ravn, Jillian P Casey, Arif Khan, Anupam Chakrapani, Grace Vassallo, Cas Simons, Karl McKeever, Siobhan O'Sullivan, Anne-Marie Childs, Elsebet Østergaard, Adeline Vanderver, Amy Goldstein, Julie Vogt, Robert W Taylor, Robert McFarland

J Med Genet. 2016 Nov; 53(11): 768–775. Published online 2016 Jul 13. doi: 10.1136/jmedgenet-2016-103910

PMCID:: PMC5264221

Abstract Article PDF–3.2M

Select item 51105156.

Specific MRI Abnormalities Reveal Severe Perrault Syndrome due to CLPP Defects

Tom E. J. Theunissen, Radek Szklarczyk, Mike Gerards, Debby M. E. I. Hellebrekers, Elvira N. M. Mulder-Den Hartog, Jo Vanoevelen, Rick Kamps, Bart de Koning, S. Lane Rutledge, Thomas Schmitt-Mechelke, Carola G. M. van Berkel, Marjo S. van der Knaap, Irenaeus F. M. de Coo, Hubert J. M. Smeets

Front Neurol. 2016; 7: 203. Published online 2016 Nov 16. doi: 10.3389/fneur.2016.00203

PMCID:: PMC5110515

Abstract Article PDF–1.4M

Select item 50591797.

LARS2 Variants Associated with Hydrops, Lactic Acidosis, Sideroblastic Anemia, and Multisystem Failure

Lisa G. Riley, Joëlle Rudinger-Thirion, Klaus Schmitz-Abe, David R. Thorburn, Ryan L. Davis, Juliana Teo, Susan Arbuckle, Sandra T. Cooper, Dean R. Campagna, Magali Frugier, Kyriacos Markianos, Carolyn M. Sue, Mark D. Fleming, John Christodoulou

JIMD Rep. 2016; 28: 49–57. Published online 2015 Nov 5. doi: 10.1007/8904_2015_515

PMCID:: PMC5059179

Abstract Article PDF–556K

Select item 42484518.

Mutations in Twinkle primase-helicase cause Perrault syndrome with neurologic features

Hiroyuki Morino, Sarah B. Pierce, Yukiko Matsuda, Tom Walsh, Ryosuke Ohsawa, Marta Newby, Keiko Hiraki-Kamon, Masahito Kuramochi, Ming K. Lee, Rachel E. Klevit, Alan Martin, Hirofumi Maruyama, Mary-Claire King, Hideshi Kawakami

Neurology. 2014 Nov 25; 83(22): 2054–2061. doi: 10.1212/WNL.0000000000001036

PMCID:: PMC4248451

Abstract Article PDF–834K

Select item 36173819.

Perrault Syndrome Is Caused by Recessive Mutations in CLPP, Encoding a Mitochondrial ATP-Dependent Chambered Protease

Emma M. Jenkinson, Atteeq U. Rehman, Tom Walsh, Jill Clayton-Smith, Kwanghyuk Lee, Robert J. Morell, Meghan C. Drummond, Shaheen N. Khan, Muhammad Asif Naeem, Bushra Rauf, Neil Billington, Julie M. Schultz, Jill E. Urquhart, Ming K. Lee, Andrew Berry, Neil A. Hanley, Sarju Mehta, Deirdre Cilliers, Peter E. Clayton, Helen Kingston, Miriam J. Smith, Thomas T. Warner, University of Washington Center for Mendelian Genomics, Graeme C. Black, Dorothy Trump, Julian R.E. Davis, Wasim Ahmad, Suzanne M. Leal, Sheikh Riazuddin, Mary-Claire King, Thomas B. Friedman, William G. Newman

Am J Hum Genet. 2013 Apr 4; 92(4): 605–613. doi: 10.1016/j.ajhg.2013.02.013

PMCID:: PMC3617381

Abstract Article PDF–1.1M

Select item 361737710.

Mutations in LARS2, Encoding Mitochondrial Leucyl-tRNA Synthetase, Lead to Premature Ovarian Failure and Hearing Loss in Perrault Syndrome

Sarah B. Pierce, Ksenija Gersak, Rachel Michaelson-Cohen, Tom Walsh, Ming K. Lee, Daniel Malach, Rachel E. Klevit, Mary-Claire King, Ephrat Levy-Lahad

Am J Hum Genet. 2013 Apr 4; 92(4): 614–620. doi: 10.1016/j.ajhg.2013.03.007

PMCID:: PMC3617377

Abstract Article PDF–1.1M

Select item 308102311.

Mutations in mitochondrial histidyl tRNA synthetase HARS2 cause ovarian dysgenesis and sensorineural hearing loss of Perrault syndrome

Sarah B. Pierce, Karen M. Chisholm, Eric D. Lynch, Ming K. Lee, Tom Walsh, John M. Opitz, Weiqing Li, Rachel E. Klevit, Mary-Claire King

Proc Natl Acad Sci U S A. 2011 Apr 19; 108(16): 6543–6548. Published online 2011 Apr 4. doi: 10.1073/pnas.1103471108

PMCID:: PMC3081023

Abstract Article PDF–811K

Select item 291770412.

Mutations in the DBP-Deficiency Protein HSD17B4 Cause Ovarian Dysgenesis, Hearing Loss, and Ataxia of Perrault Syndrome

Sarah B. Pierce, Tom Walsh, Karen M. Chisholm, Ming K. Lee, Anne M. Thornton, Agata Fiumara, John M. Opitz, Ephrat Levy-Lahad, Rachel E. Klevit, Mary-Claire King

Am J Hum Genet. 2010 Aug 13; 87(2): 282–288. doi: 10.1016/j.ajhg.2010.07.007

PMCID:: PMC2917704

Abstract Article PDF–538K

Select item 137770713.

Peroxisomal bifunctional protein deficiency revisited: resolution of its true enzymatic and molecular basis.

E G van Grunsven, E van Berkel, P A Mooijer, P A Watkins, H W Moser, Y Suzuki, L L Jiang, T Hashimoto, G Hoefler, J Adamski, R J Wanders

Am J Hum Genet. 1999 Jan; 64(1): 99–107. doi: 10.1086/302180

PMCID:: PMC1377707

Summary PDF–1.0M

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