• Issue

    American Journal of Medical Genetics Part A: Volume 173, Issue 3

    i, 569-829
    March 2017
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Cover Image

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Cover Image, Volume 173A, Number 3, March 2017

Smrithi Salian,  Tae-Joon Cho,  Shubha R. Phadke,  Kalpana Gowrishankar,  Gandham SriLakshmi Bhavani,  Anju Shukla,  Sujatha Jagadeesh,  Ok-Hwa Kim,  Gen Nishimura,  Katta M. Girisha, 
  • Page: i
  • First Published: 17 February 2017
Cover Image, Volume 173A, Number 3, March 2017

The cover image, by Katta M. Girisha et al., is based on the Original Article Additional three patients with smithmccort dysplasia due to novel rab33b mutations, DOI: 10.1002/ajmg.a.38064.

Issue Information

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Table of Contents, Volume 173A, Number 3, March 2017

  • Pages: 569-573
  • First Published: 17 February 2017
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Publication schedule for 2017

  • Page: 574
  • First Published: 17 February 2017

the AJMG SEQUENCE: Decoding News and Trends for the Medical Genetics Community by Deborah Levenson

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Early embryonic development detailed in new digital atlas: Atlas features 3-D images of human embryos; helps chart growth rates of organs, structures

  • Pages: 575-576
  • First Published: 17 February 2017
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American college of medical genetics and genomics updates secondary findings guidelines: Revision adds new genes to testing list, outlines standardized process for including variants on list

  • Pages: 576-577
  • First Published: 17 February 2017
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In this issue

  • Page: 578
  • First Published: 17 February 2017

Invited Comment

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The utility of alpha-fetoprotein screening in Beckwith–Wiedemann syndrome

Kelly A. Duffy,  Matthew A. Deardorff,  Jennifer M. Kalish, 
  • Pages: 581-584
  • First Published: 04 February 2017

Correspondence

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Serum alpha-fetoprotein screening for hepatoblastoma in Beckwith–Wiedemann syndrome

Alessandro Mussa,  Giovanni Battista Ferrero, 
  • Pages: 585-587
  • First Published: 17 February 2017

Original Articles

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Additional three patients with Smith-McCort dysplasia due to novel RAB33B mutations

Smrithi Salian,  Tae-Joon Cho,  Shubha R. Phadke,  Kalpana Gowrishankar,  Gandham SriLakshmi Bhavani,  Anju Shukla,  Sujatha Jagadeesh,  Ok-Hwa Kim,  Gen Nishimura,  Katta M. Girisha, 
  • Pages: 588-595
  • First Published: 27 January 2017
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A novel NDUFS4 frameshift mutation causes Leigh disease in the Hutterite population

Ryan E. Lamont,  Chandree L. Beaulieu,  Francois P. Bernier,  Rebecca Sparkes,  A. Micheil Innes,  Candice Jackel-Cram,  Carole Ober,  Jillian S. Parboosingh,  Edmond G. Lemire, 
  • Pages: 596-600
  • First Published: 27 September 2016
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Molecular and clinical analysis of ALPL in a cohort of patients with suspicion of Hypophosphatasia

Jair Tenorio,  Ignacio Álvarez,  Leyre Riancho-Zarrabeitia,  Gabriel Á. Martos-Moreno,  Giorgia Mandrile,  Monserrat de la Flor Crespo,  Mikhail Sukchev,  Mostafa Sherif,  Iza Kramer,  María T. Darnaude-Ortiz,  Pedro Arias,  Gema Gordo,  Irene Dapía,  Julián Martinez-Villanueva,  Rubén Gómez,  José Manuel Iturzaeta,  Ghada Otaify,  Mayte García-Unzueta,  Alessandro Rubinacci,  José A. Riancho,  Mona Aglan,  Samia Temtamy,  Mohamed Abdel Hamid,  Jesús Argente,  Víctor L. Ruiz-Pérez,  Karen E. Heath,  Pablo Lapunzina, 
  • Pages: 601-610
  • First Published: 27 January 2017
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A de novo splice site mutation in CASK causes FG syndrome-4 and congenital nystagmus

P. Dunn,  G. P. Prigatano,  S. Szelinger,  J. Roth,  A. L. Siniard,  A. M. Claasen,  R. F. Richholt,  M. De Both,  J. J. Corneveaux,  A. M. Moskowitz,  C. Balak,  I. S. Piras,  M. Russell,  A. L. Courtright,  N. Belnap,  S. Rangasamy,  K. Ramsey,  J. M. Opitz,  D. W. Craig,  V. Narayanan,  M. J. Huentelman,  I. Schrauwen, 
  • Pages: 611-617
  • First Published: 31 January 2017
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Signs of dysarthria in adults with 22q11.2 deletion syndrome

Christina Persson,  Katja Laakso,  Hannah Edwardsson,  Johanna Lindblom,  Lena Hartelius, 
  • Pages: 618-626
  • First Published: 27 January 2017
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Out-of-pocket medical costs and third-party healthcare costs for children with Down syndrome

Andrew Kageleiry,  David Samuelson,  Mei Sheng Duh,  Patrick Lefebvre,  John Campbell,  Brian G. Skotko, 
  • Pages: 627-637
  • First Published: 14 December 2016
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Is cutis verticis Gyrata-Intellectual Disability syndrome an underdiagnosed condition? A case report and review of 62 cases

Arianna Tucci,  Lidia Pezzani,  Giulietta Scuvera,  Luisa Ronzoni,  Elisa Scola,  Susanna Esposito,  Donatella Milani, 
  • Pages: 638-646
  • First Published: 25 December 2016
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Analysis of copy number variants in 11 pairs of monozygotic twins with neurofibromatosis type 1

Emily R. Sites,  Teresa A. Smolarek,  Lisa J. Martin,  David H. Viskochil,  David A. Stevenson,  Nicole J. Ullrich,  Ludwine M. Messiaen,  Elizabeth K. Schorry, 
  • Pages: 647-653
  • First Published: 14 November 2016

New Syndrome

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A novel disorder of sex development, characterized by progressive regression of testicular function and cystic leukoencephalopathy

Massimiliano Rossi,  Alexandre Vasiljevic,  Audrey Labalme,  Frédérique Dijoud,  Delphine Mallet-Motak,  Carmen Adina Petcu,  Renaud Touraine,  Christine Vianey-Saban,  Laurent Guibaud,  Patrick Edery,  Damien Sanlaville,  Yves Morel, 
  • Pages: 654-660
  • First Published: 04 February 2017

Clinical Report

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CELSR2, encoding a planar cell polarity protein, is a putative gene in Joubert syndrome with cortical heterotopia, microophthalmia, and growth hormone deficiency

Thierry Vilboux,  May Christine V. Malicdan,  Joseph C. Roney,  Andrew R. Cullinane,  Joshi Stephen,  Deniz Yildirimli,  Joy Bryant,  Roxanne Fischer,  Meghana Vemulapalli,  James C. Mullikin,  NISC Comparative Sequencing Program ,  Peter J. Steinbach,  William A. Gahl,  Meral Gunay-Aygun, 
  • Pages: 661-666
  • First Published: 04 January 2017

Original Articles

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Brain hemorrhages in Jacobsen syndrome: A retrospective review of six cases and clinical recommendations

Paul Grossfeld, 
  • Pages: 667-670
  • First Published: 17 February 2017
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First report of factors associated with satisfaction in patients with neurofibromatosis

Eric Riklin,  Mojtaba Talaei-Khoei,  Vanessa L. Merker,  Monica R. Sheridan,  Justin T. Jordan,  Scott R. Plotkin,  Ana-Maria Vranceanu, 
  • Pages: 671-677
  • First Published: 17 February 2017
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Incidence of Fragile X syndrome in Ireland

James J. O'Byrne,  Michael Sweeney,  Deirdre E. Donnelly,  Deborah M. Lambert,  Eleanor D. Beattie,  Celine M. Gervin,  David E. Barton,  Sally A. Lynch, 
  • Pages: 678-683
  • First Published: 03 February 2017
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Developing a CHARGE syndrome checklist: Health supervision across the lifespan (from head to toe)

Carrie-Lee Trider,  Angela Arra-Robar,  Conny van Ravenswaaij-Arts,  Kim Blake, 
  • Pages: 684-691
  • First Published: 04 February 2017
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Constitutional bone impairment in Noonan syndrome

Giuseppina Baldassarre,  Alessandro Mussa,  Diana Carli,  Cristina Molinatto,  Giovanni Battista Ferrero, 
  • Pages: 692-698
  • First Published: 17 February 2017
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Whole exome sequencing identified 1 base pair novel deletion in BCL2-associated athanogene 3 (BAG3) gene associated with severe dilated cardiomyopathy (DCM) requiring heart transplant in multiple family members

Muhammad Arshad Rafiq,  Ayeshah Chaudhry,  Melanie Care,  Danna A. Spears,  Chantal F. Morel,  Robert M. Hamilton, 
  • Pages: 699-705
  • First Published: 17 February 2017

Clinical Reports

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Prenatal and postnatal presentations of corpus callosum agenesis with polymicrogyria caused by EGP5 mutation

Camille Maillard,  Mara Cavallin,  Kevin Piquand,  Marion Philbert,  Jean Philippe Bault,  Anne Elodie Millischer,  Despina Moshous,  Marlène Rio,  Cyril Gitiaux,  Nathalie Boddaert,  Cecile Masson,  Sophie Thomas,  Nadia Bahi-Buisson, 
  • Pages: 706-711
  • First Published: 07 February 2017
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A girl with developmental delay, ataxia, cranial nerve palsies, severe respiratory problems in infancy—Expanding NDST1 syndrome

Linlea Armstrong,  Maja Tarailo-Graovac,  Graham Sinclair,  Kimberly I. Seath,  Wyeth W. Wasserman,  Colin J. Ross,  Clara D. M. van Karnebeek, 
  • Pages: 712-715
  • First Published: 17 February 2017
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Potocki–Shaffer syndrome in a child without intellectual disability—The role of PHF21A in cognitive function

Caroline McCool,  Adiaha Spinks-Franklin,  Lenora M. Noroski,  Lorraine Potocki, 
  • Pages: 716-720
  • First Published: 27 January 2017
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A Chinese patient with Toriello–Carey syndrome and an interstitial deletion of 3q

Lulu Xie,  Xianqiong Luo,  Jie Yang,  Junping Wang,  Chuan Nie,  Zhu Wang, 
  • Pages: 721-726
  • First Published: 17 October 2016
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Continuing role for classical cytogenetics: Case report of a boy with ring syndrome caused by complete ring chromosome 4 and review of literature

Anna Lena Burgemeister,  Eva Daumiller,  Ilona Dietze-Armana,  Christine Klett,  Clemens Freiberg,  Wiebke Stark,  Michael Lingen,  Izabela Centonze,  Günther Rettenberger,  Karl Mehnert,  Birgit Zirn, 
  • Pages: 727-732
  • First Published: 27 January 2017
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Corner fracture type spondylometaphyseal dysplasia: Overlap with type II collagenopathies

Keren Machol,  Mahim Jain,  Mohammed Almannai,  Thibault Orand,  James T. Lu,  Alyssa Tran,  Yuqing Chen,  Alan Schlesinger,  Richard Gibbs,  Luisa Bonafe,  Ana Belinda Campos-Xavier,  Sheila Unger,  Andrea Superti-Furga,  Brendan H. Lee,  Philippe M. Campeau,  Lindsay C. Burrage, 
  • Pages: 733-739
  • First Published: 26 November 2016
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Homozygous mutation in PRUNE1 in an Oji-Cree male with a complex neurological phenotype

Gregory Costain,  Andrea Shugar,  Pradeep Krishnan,  Saadet Mahmutoglu,  Suzanne Laughlin,  Peter Kannu, 
  • Pages: 740-743
  • First Published: 17 February 2017
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Rare familial TSC2 gene mutation associated with atypical phenotype presentation of Tuberous Sclerosis Complex

Jonah Fox,  Shay Ben-Shachar,  Shimrit Uliel,  Ran Svirsky,  Hirotomo Saitsu,  Naomichi Matsumoto,  Aviva Fattal-Valevski, 
  • Pages: 744-748
  • First Published: 27 January 2017
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An elderly Jervell and Lange-Nielsen patient heterozygous compound for two new KCNQ1 mutations

Eliecer Coto,  Francisco J. García-Fernández,  David Calvo,  Ricardo Salgado-Aranda,  Javier Martín-González,  Belén Alonso,  Sara Iglesias,  Juan Gómez, 
  • Pages: 749-752
  • First Published: 21 November 2016
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Atypical Angelman syndrome due to a mosaic imprinting defect: Case reports and review of the literature

Anna Le Fevre,  Jasmin Beygo,  Cheryl Silveira,  Benjamin Kamien,  Jill Clayton-Smith,  Alison Colley,  Karin Buiting,  Tracy Dudding-Byth, 
  • Pages: 753-757
  • First Published: 17 February 2017
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Missense variant in UBA2 associated with aplasia cutis congenita, duane anomaly, hip dysplasia and other anomalies: A possible new disorder involving the SUMOylation pathway

Michael Marble,  Maria J. Guillen Sacoto,  Rashmi Chikarmane,  Dominic Gargiulo,  Jane Juusola, 
  • Pages: 758-761
  • First Published: 22 January 2017
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10-year-old female with intragenic KANSL1 mutation, no KANSL1-related intellectual disability, and preserved verbal intelligence

Colleen Keen,  Carole Samango-Sprouse,  Holly Dubbs,  Elaine H. Zackai, 
  • Pages: 762-765
  • First Published: 17 February 2017
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1q21.3 deletion involving GATAD2B: An emerging recurrent microdeletion syndrome

Thipwimol Tim-Aroon,  Natini Jinawath,  Weerin Thammachote,  Praweena Sinpitak,  Anchalee Limrungsikul,  Chaiyos Khongkhatithum,  Duangrurdee Wattanasirichaigoon, 
  • Pages: 766-770
  • First Published: 17 February 2017
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TSC2 c.1864C>T variant associated with mild cases of tuberous sclerosis complex

Laura S. Farach,  William T. Gibson,  Steven P. Sparagana,  Mark Nellist,  Connie T. R. M. Stumpel,  Marja Hietala,  Elliott Friedman,  Deborah A. Pearson,  Susan P. Creighton,  Annemiek Wagemans,  Reveel Segel,  Efrat Ben-Shalom,  Kit Sing Au,  Hope Northrup, 
  • Pages: 771-775
  • First Published: 17 February 2017
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Prenatal diagnosis of inverted duplication deletion 8p syndrome mimicking trisomy 18

Mehmet Ozgur Akkurt,  Amanda Higgs,  Ozerk T. Turan,  Ozhan M. Turan,  Sifa Turan, 
  • Pages: 776-779
  • First Published: 17 February 2017
Open Access

Intrathecal enzyme replacement therapy reverses cognitive decline in mucopolysaccharidosis type I

Igor Nestrasil,  Elsa Shapiro,  Alena Svatkova,  Patricia Dickson,  Agnes Chen,  Amy Wakumoto,  Alia Ahmed,  Edward Stehel,  Sarah McNeil,  Curtis Gravance,  Elizabeth Maher, 
  • Pages: 780-783
  • First Published: 17 February 2017
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Timothy syndrome 1 genotype without syndactyly and major extracardiac manifestations

Róbert Sepp,  Lidia Hategan,  Attila Bácsi,  Judit Cseklye,  László Környei,  János Borbás,  Márta Széll,  Tamás Forster,  István Nagy,  Zoltán Hegedűs, 
  • Pages: 784-789
  • First Published: 17 February 2017

Research Review

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Adams–Oliver syndrome review of the literature: Refining the diagnostic phenotype

Susan Hassed,  Shibo Li,  John Mulvihill,  Christopher Aston,  Susan Palmer, 
  • Pages: 790-800
  • First Published: 04 February 2017

Research Letters

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De novo 11q deletion including SHANK2 in a patient with global developmental delay

Cherisse A. Marcou,  April L. Studinski Jones,  Marine I. Murphree,  Salman Kirmani,  Nicole L. Hoppman, 
  • Pages: 801-805
  • First Published: 17 February 2017
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CRTAP variants in early-onset osteoporosis and recurrent fractures

Alice Costantini,  Ilkka Vuorimies,  Riikka Mäkitie,  Mervi K. Mäyränpää,  Jutta Becker,  Minna Pekkinen,  Helena Valta,  Christian Netzer,  Anders Kämpe,  Fulya Taylan,  Hong Jiao,  Outi Mäkitie, 
  • Pages: 806-808
  • First Published: 30 November 2016
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A de novo SATB2 mutation in monozygotic twins with cleft palate, dental anomalies, and developmental delay

Emily Schwartz,  Alisha Wilkens,  Sarah E. Noon,  Ian D. Krantz,  Yaning Wu, 
  • Pages: 809-812
  • First Published: 17 February 2017

Genetic Drift

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Surviving with trisomy 13: Provider and parent perspectives and the role of the pediatric palliative care program

Duc Chung,  Kristina Haynes,  Russell Haynes, 
  • Pages: 813-815
  • First Published: 25 December 2016

Research Letters

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The p.R56* mutation in PTHLH causes variable brachydactyly type E

Arrate Pereda,  Lucia Garzon-Lorenzo,  Intza Garin,  Jaime Cruz-Rojo,  Jaime Sanchez del Pozo,  Guiomar Perez de Nanclares, 
  • Pages: 816-819
  • First Published: 17 February 2017
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A novel AMPD2 mutation outside the AMP deaminase domain causes pontocerebellar hypoplasia type 9

Ashley P. L. Marsh,  Patrick Yap,  Tiong Tan,  Kate Pope,  Susan M. White,  Belinda Chong,  George Mcgillivray,  Amber Boys,  Sarah E. M. Stephenson,  Richard J. Leventer,  Zornitza Stark,  Paul J. Lockhart, 
  • Pages: 820-823
  • First Published: 07 February 2017
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The recurrent PPP1CB mutation p.Pro49Arg in an additional Noonan-like syndrome individual: Broadening the clinical phenotype

Débora Bertola,  Guilherme Yamamoto,  Michelle Buscarilli,  Alexander Jorge,  Maria Rita Passos-Bueno,  Chong Kim, 
  • Pages: 824-828
  • First Published: 17 February 2017

Corrigendum

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Spectrum of mutations in the SMPD1 gene in Asian Indian patients with acid sphingomyelinase deficient Niemann–Pick disease

Prajnya Ranganath,  Divya Matta,  Gandham SriLakshmi Bhavani,  Savita Wangnekar,  Jamal Mohammed Nurul Jain,  Ishwar C. Verma,  Madhulika Kabra,  Ratna D. Puri,  Sumita Danda,  Neerja Gupta,  Katta M. Girisha,  Vaikom H. Sankar,  Siddaramappa J. Patil,  Akella Radha Rama Devi,  Meenakshi Bhat,  Kalpana Gowrishankar,  Kausik Mandal,  Shagun Aggarwal,  Parag Mohan Tamhankar,  Preetha Tilak,  Shubha R. Phadke,  Ashwin Dalal, 
  • Page: 829
  • First Published: 09 February 2017