lunes, 18 de septiembre de 2017

American Journal of Medical Genetics Part A - Volume 173, Issue 9 - September 2017 - Wiley Online Library

American Journal of Medical Genetics Part A - Volume 173, Issue 9 - September 2017 - Wiley Online Library





American Journal of Medical Genetics Part A

© Wiley Periodicals, Inc.
Cover image for Vol. 173 Issue 9

September 2017

Volume 173, Issue 9
Pages i–i, 2297–2566

  1. COVER IMAGE

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      Cover Image, Volume 173A, Number 9, September 2017 (page i)
      Paul Kruszka, Antonio R. Porras, Yonit A. Addissie, Angélica Moresco, Sofia Medrano, Gary T. K. Mok, Gordon K. C. Leung, Cedrik Tekendo-Ngongang, Annette Uwineza, Meow-Keong Thong, Premala Muthukumarasamy, Engela Honey, Ekanem N. Ekure, Ogochukwu J. Sokunbi, Nnenna Kalu, Kelly L. Jones, Julie D. Kaplan, Omar A. Abdul-Rahman, Lisa M. Vincent, Amber Love, Khadija Belhassan, Karim Ouldim, Ihssane El Bouchikhi, Anju Shukla, Katta M. Girisha, Siddaramappa J. Patil, Nirmala D. Sirisena, Vajira H. W. Dissanayake, C. Sampath Paththinige, Rupesh Mishra, Eva Klein-Zighelboim, Bertha E. Gallardo Jugo, Miguel Chávez Pastor, Hugo H. Abarca-Barriga, Steven A. Skinner, Eloise J. Prijoles, Eben Badoe, Ashleigh D. Gill, Vorasuk Shotelersuk, Patroula Smpokou, Monisha S. Kisling, Carlos R. Ferreira, Leon Mutesa, Andre Megarbane, Antonie D. Kline, Amy Kimball, Emmy Okello, Peter Lwabi, Twalib Aliku, Emmanuel Tenywa, Nonglak Boonchooduang, Pranoot Tanpaiboon, Antonio Richieri-Costa, Ambroise Wonkam, Brian H. Y. Chung, Roger E. Stevenson, Marshall Summar, Kausik Mandal, Shubha R. Phadke, María G. Obregon, Marius G. Linguraru and Maximilian Muenke
      Version of Record online: 17 AUG 2017 | DOI: 10.1002/ajmg.a.38408
      Thumbnail image of graphical abstract
      The cover image, by Paul Kruszka et al., is based on the Original Article Noonan Syndrome in Diverse Populations, DOI: 10.1002/ajmg.a.38362. Design Credit: Darryl Leja.

  2. ISSUE INFORMATION

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      Table of Contents, Volume 173A, Number 9, September 2017 (pages 2297–2301)
      Version of Record online: 17 AUG 2017 | DOI: 10.1002/ajmg.a.37917
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      Publication schedule for 2017 (page 2302)
      Version of Record online: 17 AUG 2017 | DOI: 10.1002/ajmg.a.37918

  3. THE AJMG SEQUENCE: DECODING NEWS AND TRENDS FOR THE MEDICAL GENETICS COMMUNITY BY DEBORAH LEVENSON

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      Infants with cystic fibrosis still lag on some growth measures : Babies' weight on par with healthy peers, but growth is still stunted (pages 2303–2304)
      Version of Record online: 17 AUG 2017 | DOI: 10.1002/ajmg.a.37919
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      Few direct-to-consumer test users receive genetic counseling : More consumers discuss results with primary care physicians (pages 2304–2305)
      Version of Record online: 17 AUG 2017 | DOI: 10.1002/ajmg.a.38409
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      In this issue (page 2306)
      Version of Record online: 17 AUG 2017 | DOI: 10.1002/ajmg.a.38410

  4. RESEARCH REVIEW

    1. Drug discovery and development for rare genetic disorders (pages 2307–2322)
      Wei Sun, Wei Zheng and Anton Simeonov
      Version of Record online: 21 JUL 2017 | DOI: 10.1002/ajmg.a.38326

  5. ORIGINAL ARTICLES

    1. Noonan syndrome in diverse populations (pages 2323–2334)
      Paul Kruszka, Antonio R. Porras, Yonit A. Addissie, Angélica Moresco, Sofia Medrano, Gary T. K. Mok, Gordon K. C. Leung, Cedrik Tekendo-Ngongang, Annette Uwineza, Meow-Keong Thong, Premala Muthukumarasamy, Engela Honey, Ekanem N. Ekure, Ogochukwu J. Sokunbi, Nnenna Kalu, Kelly L. Jones, Julie D. Kaplan, Omar A. Abdul-Rahman, Lisa M. Vincent, Amber Love, Khadija Belhassan, Karim Ouldim, Ihssane El Bouchikhi, Anju Shukla, Katta M. Girisha, Siddaramappa J. Patil, Nirmala D. Sirisena, Vajira H. W. Dissanayake, C. Sampath Paththinige, Rupesh Mishra, Eva Klein-Zighelboim, Bertha E. Gallardo Jugo, Miguel Chávez Pastor, Hugo H. Abarca-Barriga, Steven A. Skinner, Eloise J. Prijoles, Eben Badoe, Ashleigh D. Gill, Vorasuk Shotelersuk, Patroula Smpokou, Monisha S. Kisling, Carlos R. Ferreira, Leon Mutesa, Andre Megarbane, Antonie D. Kline, Amy Kimball, Emmy Okello, Peter Lwabi, Twalib Aliku, Emmanuel Tenywa, Nonglak Boonchooduang, Pranoot Tanpaiboon, Antonio Richieri-Costa, Ambroise Wonkam, Brian H. Y. Chung, Roger E. Stevenson, Marshall Summar, Kausik Mandal, Shubha R. Phadke, María G. Obregon, Marius G. Linguraru and Maximilian Muenke
      Version of Record online: 27 JUL 2017 | DOI: 10.1002/ajmg.a.38362
    2. Motor performance in children with Noonan syndrome (pages 2335–2345)
      Ellen A. Croonen, Marlou Essink, Ineke van der Burgt, Jos M. Draaisma, Cees Noordam and Maria W. G. Nijhuis-van der Sanden
      Version of Record online: 19 JUN 2017 | DOI: 10.1002/ajmg.a.38322
    3. Craniosynostosis in patients with RASopathies: Accumulating clinical evidence for expanding the phenotype (pages 2346–2352)
      Kimiko Ueda, Masako Yaoita, Tetsuya Niihori, Yoko Aoki and Nobuhiko Okamoto
      Version of Record online: 26 JUN 2017 | DOI: 10.1002/ajmg.a.38337
    4. Growth hormone excess in children with neurofibromatosis type-1 and optic glioma (pages 2353–2358)
      Paola Cambiaso, Stefania Galassi, Melania Palmiero, Angela Mastronuzzi, Francesca Del Bufalo, Rossella Capolino, Antonella Cacchione, Paola S. Buonuomo, Michaela V. Gonfiantini, Andrea Bartuli, Marco Cappa and Marina Macchiaiolo
      Version of Record online: 20 JUN 2017 | DOI: 10.1002/ajmg.a.38308
    5. Characterization of thrombosis in patients with Proteus syndrome (pages 2359–2365)
      Kim M. Keppler-Noreuil, Jay N. Lozier, Julie C. Sapp and Leslie G. Biesecker
      Version of Record online: 19 JUN 2017 | DOI: 10.1002/ajmg.a.38311
    6. The immune deficiency of chromosome 22q11.2 deletion syndrome (pages 2366–2372)
      Megan Morsheimer, Terri F. Brown Whitehorn, Jennifer Heimall and Kathleen E. Sullivan
      Version of Record online: 19 JUN 2017 | DOI: 10.1002/ajmg.a.38319
    7. Development of emotional and behavioral problems in neurofibromatosis type 1 during young childhood (pages 2373–2380)
      André B. Rietman, Rianne Oostenbrink, Kimberley van Noort, Marie-Christine J. P. Franken, Coriene E. Catsman-Berrevoets, Femke K. Aarsen, Jos G. Hendriksen and Pieter F. A. de Nijs
      Version of Record online: 19 JUN 2017 | DOI: 10.1002/ajmg.a.38323
    8. von Hippel-Lindau development in children and adolescents (pages 2381–2394)
      Karoline Launbjerg, Iben Bache, Michael Galanakis, Marie Luise Bisgaard and Marie Louise M. Binderup
      Version of Record online: 26 JUN 2017 | DOI: 10.1002/ajmg.a.38324
    9. Demographics and co-occurring conditions in a clinic-based cohort with Down syndrome in the United Arab Emirates (pages 2395–2407)
      Jennifer Price Corder, Fatima Jaber Sehmi Al Ahbabi, Hind Saif Al Dhaheri and Fares Chedid
      Version of Record online: 7 JUL 2017 | DOI: 10.1002/ajmg.a.38338
    10. Automatic recognition of the XLHED phenotype from facial images (pages 2408–2414)
      Smail Hadj-Rabia, Holm Schneider, Elena Navarro, Ophir Klein, Neil Kirby, Kenneth Huttner, Lior Wolf, Melanie Orin, Sigrun Wohlfart, Christine Bodemer and Dorothy K. Grange
      Version of Record online: 10 JUL 2017 | DOI: 10.1002/ajmg.a.38343
    11. MED resulting from recessively inherited mutations in the gene encoding calcium-activated nucleotidase CANT1 (pages 2415–2421)
      Karthika Balasubramanian, Bing Li, Deborah Krakow, Lisette Nevarez, Patric J. Ho, Julia A. Ainsworth, Deborah A. Nickerson, Michael J. Bamshad, LaDonna Immken, Ralph S. Lachman and Daniel H. Cohn
      Version of Record online: 25 JUL 2017 | DOI: 10.1002/ajmg.a.38349

  6. RAPID COMMUNICATION

    1. Expansion of the phenotype of Kosaki overgrowth syndrome (pages 2422–2427)
      Mari Minatogawa, Toshiki Takenouchi, Yu Tsuyusaki, Fuminori Iwasaki, Tomoko Uehara, Kenji Kurosawa, Kenjiro Kosaki and Cynthia J. Curry
      Version of Record online: 22 JUN 2017 | DOI: 10.1002/ajmg.a.38310

  7. ORIGINAL ARTICLE

    1. Dolichol kinase deficiency (DOLK-CDG): Two new cases and expansion of phenotype (pages 2428–2434)
      Eric T. Rush, Craig V. Baker and William B. Rizzo
      Version of Record online: 17 AUG 2017 | DOI: 10.1002/ajmg.a.38287

  8. RESEARCH LETTERS

    1. Marfan syndrome with a homozygous FBN1 splicing mutation (pages 2435–2438)
      Xin-Xin Lu, Qi Xie, Ren Wang, Biao Zhang, Dan-Dan Guo, Xiao-Li Huang, Xi-Jun Chen and Yan-An Wu
      Version of Record online: 21 JUN 2017 | DOI: 10.1002/ajmg.a.38278
    2. Expanding the allelic disorders linked to TCTN1 to include Varadi syndrome (Orofaciodigital syndrome type VI) (pages 2439–2441)
      Mohammad M. Al-Qattan, Ranad Shaheen and Fowzan S. Alkuraya
      Version of Record online: 20 JUN 2017 | DOI: 10.1002/ajmg.a.38336
    3. Blake's pouch cyst in 13q deletion syndrome: Posterior fossa malformations may occur due to disruption of multiple genes (pages 2442–2445)
      Kenneth A. Myers, Mathew J. Wallis, Gregory J. Fitt, Harvey B. Sarnat and Mark R. Newton
      Version of Record online: 7 JUL 2017 | DOI: 10.1002/ajmg.a.38346

  9. CLINICAL REPORTS

    1. Xq26.1-26.3 duplication including MOSPD1 and GPC3 identified in boy with short stature and double outlet right ventricle (pages 2446–2450)
      Yukiko Hirota, Takaomi Minami, Tomoyuki Sato, Akiko Yokomizo, Auimi Matsumoto, Masahide Goto, Eriko Jinbo and Takanori Yamamgata
      Version of Record online: 21 JUN 2017 | DOI: 10.1002/ajmg.a.38297
    2. Dual molecular diagnosis contributes to atypical Prader–Willi phenotype in monozygotic twins (pages 2451–2455)
      Fernanda S. Jehee, Valdirene T. de Oliveira, Juliana Gurgel-Giannetti, Rafaella X. Pietra, Fernando V. M. Rubatino, Natália V. Carobin, Gabrielle S. Vianna, Mariana L. de Freitas, Karla S. Fernandes, Beatriz S. V. Ribeiro, Hennie T. Brüggenwirth, Roza Ali-Amin, Baylor-Hopkins Center for Mendelian Genomics, Janson J. White, Zeynep C. Akdemir, Shalini N. Jhangiani, Richard A. Gibbs, James R. Lupski, Monica C. Varela, Célia Koiffmann, Carla Rosenberg and Cláudia M. B. Carvalho
      Version of Record online: 20 JUN 2017 | DOI: 10.1002/ajmg.a.38315
    3. SERPINI1 pathogenic variants: An emerging cause of childhood-onset progressive myoclonic epilepsy (pages 2456–2460)
      Emmanuelle Ranza, Stephanie Garcia-Tarodo, Konstantinos Varvagiannis, Michel Guipponi, Johannes A. Lobrinus, Armand Bottani, Ilse Kern, Mary Kurian, Marie-Pascale Pittet, Stylianos E. Antonarakis, Joel Fluss and Christian M. Korff
      Version of Record online: 20 JUN 2017 | DOI: 10.1002/ajmg.a.38317
    4. Psychiatric and cognitive characteristics of individuals with Danon disease (LAMP2 gene mutation) (pages 2461–2466)
      Maya Yardeni, Omri Weisman, Hanna Mandel, Ronnie Weinberger, Giovanni Quarta, Joel Salazar-Mendiguchía, Pablo Garcia-Pavia, Maria José Lobato-Rodríguez, Lourdes Fajardo Simon, Freimark Dov, Michael Arad and Doron Gothelf
      Version of Record online: 19 JUN 2017 | DOI: 10.1002/ajmg.a.38320
    5. Agenesis of the corpus callosum, developmental delay, autism spectrum disorder, facial dysmorphism, and posterior polymorphous corneal dystrophy associated with ZEB1 gene deletion (pages 2467–2471)
      Ayeshah Chaudhry, Brian H. Chung, Dimitri J. Stavropoulos, Marcela P. Araya, Asim Ali, Elise Heon and David Chitayat
      Version of Record online: 25 JUL 2017 | DOI: 10.1002/ajmg.a.38321
    6. Neural tube defects in Waardenburg syndrome: A case report and review of the literature (pages 2472–2477)
      Joseph Hart and Kalpana Miriyala
      Version of Record online: 7 JUL 2017 | DOI: 10.1002/ajmg.a.38325
    7. A novel microduplication of ARID1B: Clinical, genetic, and proteomic findings(pages 2478–2484)
      Catarina M. Seabra, Nicholas Szoko, Serkan Erdin, Ashok Ragavendran, Alexei Stortchevoi, Patrícia Maciel, Kathleen Lundberg, Daniela Schlatzer, Janice Smith, Michael E. Talkowski, James F. Gusella and Marvin R. Natowicz
      Version of Record online: 10 JUL 2017 | DOI: 10.1002/ajmg.a.38327
    8. The importance of phase analysis in multiexon copy number variation detected by aCGH in autosomal recessive disorder loci (pages 2485–2488)
      Madelyn A. Gillentine, Christian P. Schaaf and Ankita Patel
      Version of Record online: 20 JUN 2017 | DOI: 10.1002/ajmg.a.38328
    9. FOXC1 haploinsufficiency due to 6p25 deletion in a patient with rapidly progressing aortic valve disease (pages 2489–2493)
      Caroline Ovaert, Tiffany Busa, Emilie Faure, Chantal Missirian, Nicole Philip, Florent Paoli, Mathieu Milh, Loic Macé and Stephane Zaffran
      Version of Record online: 28 JUN 2017 | DOI: 10.1002/ajmg.a.38331
    10. Progressive SCAR14 with unclear speech, developmental delay, tremor, and behavioral problems caused by a homozygous deletion of the SPTBN2 pleckstrin homology domain (pages 2494–2499)
      Esra Yıldız Bölükbaşı, Muhammad Afzal, Sara Mumtaz, Nafees Ahmad, Sajid Malik and Aslıhan Tolun
      Version of Record online: 21 JUN 2017 | DOI: 10.1002/ajmg.a.38332
    11. Next generation deep sequencing corrects diagnostic pitfalls of traditional molecular approach in a patient with prenatal onset of Pompe disease (pages 2500–2504)
      Anne Chun-Hui Tsai, Yu-Wen Hung, Cary Harding, David M. Koeller, Jing Wang and Lee-Jun C. Wong
      Version of Record online: 28 JUN 2017 | DOI: 10.1002/ajmg.a.38333
    12. Deficiency of WARS2, encoding mitochondrial tryptophanyl tRNA synthetase, causes severe infantile onset leukoencephalopathy (pages 2505–2510)
      Benjamin E. Theisen, Anastasia Rumyantseva, Julie S. Cohen, Wendy A. Alcaraz, Deepali N. Shinde, Sha Tang, Siddarth Srivastava, Jonathan Pevsner, Aleksandra Trifunovic and Ali Fatemi
      Version of Record online: 26 JUN 2017 | DOI: 10.1002/ajmg.a.38339
    13. Diagnosis of Xeroderma pigmentosum variant in a young patient with two novel mutations in the POLH gene (pages 2511–2516)
      Armando De Palma, Marie-Anne Morren, Cécile Ged, Caroline Pouvelle, Alain Taïeb, Said Aoufouchi and Alain Sarasin
      Version of Record online: 8 JUL 2017 | DOI: 10.1002/ajmg.a.38340
    14. Juvenile-onset generalized lipodystrophy due to a novel heterozygous missense LMNA mutation affecting lamin C (pages 2517–2521)
      Nivedita Patni, Chao Xing, Anil K. Agarwal and Abhimanyu Garg
      Version of Record online: 7 JUL 2017 | DOI: 10.1002/ajmg.a.38341
    15. Autopsy findings in EPG5-related Vici syndrome with antenatal onset (pages 2522–2527)
      Renaud Touraine, Annie Laquerrière, Carmen-Adina Petcu, Florent Marguet, Susan Byrne, Rachael Mein, Shu Yau, Shehla Mohammed, Laurent Guibaud, Mathias Gautel and Heinz Jungbluth
      Version of Record online: 27 JUL 2017 | DOI: 10.1002/ajmg.a.38342
    16. A prenatal diagnosis of mosaic trisomy 5 reveals a postnatal complete uniparental disomy of chromosome 5 with multiple congenital anomalies (pages 2528–2533)
      Andrew M. Reittinger, Benjamin M. Helm, Debra J. Boles, Inder K. Gadi and Samantha A. Schrier Vergano
      Version of Record online: 27 JUN 2017 | DOI: 10.1002/ajmg.a.38344
    17. Biallelic COL3A1 mutations result in a clinical spectrum of specific structural brain anomalies and connective tissue abnormalities (pages 2534–2538)
      Denise Horn, Eberhard Siebert, Ulrich Seidel, Imma Rost, Karin Mayer, Rami Abou Jamra, Diana Mitter and Uwe Kornak
      Version of Record online: 25 JUL 2017 | DOI: 10.1002/ajmg.a.38345
    18. Homozygous null variant in CRADD, encoding an adaptor protein that mediates apoptosis, is associated with lissencephaly (pages 2539–2544)
      Tamar Harel, Nuphar Hacohen, Avraham Shaag, Moshe Gomori, Amihood Singer, Orly Elpeleg and Vardiella Meiner
      Version of Record online: 7 JUL 2017 | DOI: 10.1002/ajmg.a.38347
    19. Skewed X-inactivation in a family with DLG3-associated X-linked intellectual disability (pages 2545–2550)
      Laura Gieldon, Luisa Mackenroth, Elitza Betcheva-Krajcir, Andreas Rump, Stefanie Beck-Wödl, Jens Schallner, Nataliya Di Donato, Evelin Schröck and Andreas Tzschach
      Version of Record online: 4 AUG 2017 | DOI: 10.1002/ajmg.a.38348
    20. Cervical artery dissection expands the cardiovascular phenotype in FBN1-related Weill–Marchesani syndrome (pages 2551–2556)
      Kelsey Newell, Wendy Smith, Brian Ghoshhajra, Eric Isselbacher, Angela Lin and Mark E. Lindsay
      Version of Record online: 11 JUL 2017 | DOI: 10.1002/ajmg.a.38353
    21. RNF213 variants in a child with PHACE syndrome and moyamoya vasculopathy(pages 2557–2561)
      Kala F. Schilter, Jack E. Steiner, Wendy Demos, Mohit Maheshwari, Jeremy W. Prokop, Elizabeth Worthey, Beth A. Drolet and Dawn H. Siegel
      Version of Record online: 7 JUL 2017 | DOI: 10.1002/ajmg.a.38258

  10. CORRESPONDENCE

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      Variants in KAT6A and pituitary anomalies (pages 2562–2565)
      Nitash Zwaveling-Soonawala, Saskia M. Maas, Marielle Alders, Charles B. Majoie, Eric Fliers, A. S. Paul van Trotsenburg and Raoul C. M. Hennekam
      Version of Record online: 21 JUN 2017 | DOI: 10.1002/ajmg.a.38330

  11. ERRATUM

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      Two patients with the heterozygous R189H mutation in ACTA2 and Complex congenital heart defects expands the cardiac phenotype of multisystemic smooth muscle dysfunction syndrome (page 2566)
      Thushiha Logeswaran, Christoph Friedburg, Karoline Hofmann, Hakan Akintuerk, Saskia Biskup, Michael Graef, Ali Rad, Axel Weber, Bernd A. Neubauer, Dietmar Schranz, Patrice Bouvagnet, Birgit Lorenz and Andreas Hahn
      Version of Record online: 23 JUN 2017 | DOI: 10.1002/ajmg.a.38329
      This article corrects:
      Vol. 173, Issue 4, 959–965, Version of Record online: 22 MAR 2017
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