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    American Journal of Medical Genetics Part A: Volume 170, Issue 12

    i, 3055-3368
    December 2016
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Cover Image, Volume 170A, Number 12, December 2016

Toshiki Takenouchi,  Hiroshi Yoshihashi,  Yuri Sakaguchi,  Tomoko Uehara,  Masataka Honda,  Takao Takahashi,  Kenjiro Kosaki,  Sahoko Miyama, 
  • Page: i
  • First Published: 18 November 2016
Cover Image, Volume 170A, Number 12, December 2016

The cover image, by Toshiki Takenouchi et al., is based on the Clinical Report Hirschsprung disease as a yet undescribed phenotype in a patient with ARID1B mutation, DOI: 10.1002/ajmg.a.37861.

Issue Information

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Table of Contents, Volume 170A, Number 12, December 2016

  • Pages: 3055-3061
  • First Published: 18 November 2016
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Publication schedule for 2016

  • Page: 3062
  • First Published: 18 November 2016

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

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Need for greater racial, ethnic diversity in genetic research: Study finds lack of diverse control populations has led to misdiagnosis of hypertrophic cardiomyopathy in black patients

  • Pages: 3063-3064
  • First Published: 18 November 2016
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New Fragile X tests may improve research on the disorder: Tests' ability to provide detailed information about genetic mutations and lower cost raise hope for clinical use and newborn screening

  • Pages: 3064-3065
  • First Published: 18 November 2016
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In this issue

  • Page: 3066
  • First Published: 18 November 2016

Editorial

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Much ado about something 2: Reflections on the state of the American Journal of Medical Genetics 2016

John C. Carey, 
  • Pages: 3067-3068
  • First Published: 28 October 2016

Original Articles

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Phenotype and genotype in 52 patients with Rubinstein–Taybi syndrome caused by EP300 mutations

Patricia Fergelot,  Martine Van Belzen,  Julien Van Gils,  Alexandra Afenjar,  Christine M. Armour,  Benoit Arveiler,  Lex Beets,  Lydie Burglen,  Tiffany Busa,  Marie Collet,  Julie Deforges,  Bert B. A. de Vries,  Elena Dominguez Garrido,  Nathalie Dorison,  Juliette Dupont,  Christine Francannet,  Sixto Garciá-Minaúr,  Elisabeth Gabau Vila,  Samuel Gebre-Medhin,  Blanca Gener Querol,  David Geneviève,  Marion Gérard,  Cristina Giovanna Gervasini,  Alice Goldenberg,  Dragana Josifova,  Katherine Lachlan,  Saskia Maas,  Bruno Maranda,  Jukka S. Moilanen,  Ann Nordgren,  Philippe Parent,  Julia Rankin,  Willie Reardon,  Marlène Rio,  Joëlle Roume,  Adam Shaw,  Robert Smigiel,  Amaia Sojo,  Benjamin Solomon,  Agnieszka Stembalska,  Constance Stumpel,  Francisco Suarez,  Paulien Terhal,  Simon Thomas,  Renaud Touraine,  Alain Verloes,  Catherine Vincent-Delorme,  Josephine Wincent,  Dorien J. M. Peters,  Oliver Bartsch,  Lidia Larizza,  Didier Lacombe,  Raoul C. Hennekam, 
  • Pages: 3069-3082
  • First Published: 20 September 2016
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Congenital limb deficiencies with vascular etiology: Possible association with maternal thrombophilia

Leslie Ordal,  Johannes Keunen,  Nicole Martin,  Nadine Shehata,  Gregory H. Borschel,  Howard M. Clarke,  Ants Toi,  Cheryl Shuman,  David Chitayat, 
  • Pages: 3083-3089
  • First Published: 17 August 2016
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Utility of genetic evaluation in infants with congenital heart defects admitted to the cardiac intensive care unit

Rebecca C. Ahrens-Nicklas,  Shama Khan,  Jennifer Garbarini,  Stacy Woyciechowski,  Lisa D'Alessandro,  Elaine H. Zackai,  Matthew A. Deardorff,  Elizabeth Goldmuntz, 
  • Pages: 3090-3097
  • First Published: 08 September 2016
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Detecting celiac disease in patients with Down syndrome

Christianne Sharr,  Jenifer Lavigne,  Ibrahim M. A. Elsharkawi,  Al Ozonoff,  Nicole Baumer,  Campbell Brasington,  Sheila Cannon,  Blythe Crissman,  Emily Davidson,  Jose C. Florez,  Priya Kishnani,  Angela Lombardo,  Jordan Lyerly,  Mary Ellen McDonough,  Alison Schwartz,  Kathryn L. Berrier,  Susan Sparks,  Kara Stock-Guild,  Tomi L. Toler,  Kishore Vellody,  Lauren Voelz,  Brian G. Skotko, 
  • Pages: 3098-3105
  • First Published: 08 September 2016
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Phenotypic evolution of UNC80 loss of function

Elise Valkanas,  Katherine Schaffer,  Christopher Dunham,  Valerie Maduro,  Christèle du Souich,  Rosemarie Rupps,  David R. Adams,  Alireza Baradaran-Heravi,  Elise Flynn,  May C. Malicdan,  William A. Gahl,  Camilo Toro,  Cornelius F. Boerkoel, 
  • Pages: 3106-3114
  • First Published: 11 August 2016
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Cognitive, adaptive, and behavioral features in Joubert syndrome

Sara Bulgheroni,  Stefano D'Arrigo,  Sabrina Signorini,  Marilena Briguglio,  Maria Lucia Di Sabato,  Manuela Casarano,  Francesca Mancini,  Marta Romani,  Paolo Alfieri,  Roberta Battini,  Marina Zoppello,  Gaetano Tortorella,  Enrico Bertini,  Vincenzo Leuzzi,  Enza Maria Valente,  Daria Riva, 
  • Pages: 3115-3124
  • First Published: 17 August 2016
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Maternal hypertension and risk for hypospadias in offspring

A. J. Agopian,  Thanh T. Hoang,  Laura E. Mitchell,  Alanna C. Morrison,  Duong Tu,  Natasha Nassar,  Mark A. Canfield, 
  • Pages: 3125-3132
  • First Published: 29 August 2016
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Rodriguez acrofacial dysostosis is caused by apparently de novo heterozygous mutations in the SF3B4 gene

Melita D. Irving,  Boyan I. Dimitrov,  Marja Wessels,  Muriel Holder-Espinasse,  David Chitayat,  Michael A. Simpson, 
  • Pages: 3133-3137
  • First Published: 19 September 2016
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Clinicians’ experiences with the fragile X clinical and research consortium

Jessica A. Liu,  Randi J. Hagerman,  Robert M. Miller,  Lisa T. Craft,  Brenda Finucane,  Nicole Tartaglia,  Elizabeth M. Berry-Kravis,  Stephanie L. Sherman,  Sharon A. Kidd,  Jeffrey Cohen, 
  • Pages: 3138-3143
  • First Published: 08 September 2016
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Importance of a specialty clinic for individuals with fragile X syndrome

Jeannie Visootsak,  Sharon A. Kidd,  Tovi Anderson,  Julia L. Bassell,  Stephanie L. Sherman,  Elizabeth M. Berry-Kravis, 
  • Pages: 3144-3149
  • First Published: 20 September 2016
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Phenotypic variability in patients with osteogenesis imperfecta caused by BMP1 mutations

Rebecca C. Pollitt,  Vrinda Saraff,  Ann Dalton,  Emma A. Webb,  Nick J. Shaw,  Glenda J. Sobey,  M. Zulf Mughal,  Emma Hobson,  Farhan Ali,  Nicholas J. Bishop,  Paul Arundel,  Wolfgang Högler,  Meena Balasubramanian, 
  • Pages: 3150-3156
  • First Published: 30 August 2016
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Autosomal and X chromosome structural variants are associated with congenital heart defects in Turner syndrome: The NHLBI GenTAC registry

Siddharth K. Prakash,  Carolyn A. Bondy,  Cheryl L. Maslen,  Michael Silberbach,  Angela E. Lin,  Laura Perrone,  Giuseppe Limongelli,  Hector I. Michelena,  Eduardo Bossone,  Rodolfo Citro,  BAVCon Investigators, GenTAC Registry Investigators ,  Scott A. Lemaire,  Simon C. Body,  Dianna M. Milewicz, 
  • Pages: 3157-3164
  • First Published: 08 September 2016
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SRD5A3-CDG: Expanding the phenotype of a congenital disorder of glycosylation with emphasis on adult onset features

Patricia G. Wheeler,  Bobby G. Ng,  Laura Sanford,  V. Reid Sutton,  Dennis W. Bartholomew,  Matthew T. Pastore,  Michael J. Bamshad,  Martin Kircher,  Kati J. Buckingham,  Deborah A. Nickerson,  Jay Shendure,  Hudson H. Freeze, 
  • Pages: 3165-3171
  • First Published: 02 August 2016
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Growth pattern in Kabuki syndrome with a KMT2D mutation

Dina A. Schott,  Marinus J. Blok,  Willem J. M. Gerver,  Koenraad Devriendt,  Luc J. I. Zimmermann,  Constance T. R. M. Stumpel, 
  • Pages: 3172-3179
  • First Published: 17 August 2016
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Attitudes toward carrier screening and prenatal diagnosis for recessive hereditary deafness among the educated population in urban China

Xiaoli Fu,  Yi Cai,  Yechen Hu,  Jisheng Liu,  Tao Yang, 
  • Pages: 3180-3184
  • First Published: 11 August 2016

Invited Comment

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Precision assessment of public attitudes toward genetic testing

Jun Shen, 
  • Pages: 3185-3188
  • First Published: 19 August 2016

Original Articles

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Expansion of the variable expression of Muenke syndrome: Hydrocephalus without craniosynostosis

Ariadna González-del Angel,  Bernardette Estandía-Ortega,  Miguel Angel Alcántara-Ortigoza,  Víctor Martínez-Cruz,  Diana Judith Gutiérrez-Tinajero,  Astrid Rasmussen,  Claudia Sofía Gómez-González, 
  • Pages: 3189-3196
  • First Published: 29 August 2016
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Paternal uniparental disomy with segmental loss of heterozygosity of chromosome 11 are hallmark characteristics of syndromic and sporadic embryonal rhabdomyosarcoma

Katherine M. Robbins,  Deborah L. Stabley,  Jennifer Holbrook,  Rebecca Sahraoui,  Alexa Sadreameli,  Katrina Conard,  Laura Baker,  Karen W. Gripp,  Katia Sol-Church, 
  • Pages: 3197-3206
  • First Published: 02 September 2016
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Clinical intrafamilial variability in lethal familial neonatal seizure disorder caused by TBC1D24 mutations

Reymundo Lozano,  Kristin Herman,  Melanie Rothfuss,  Hillary Rieger,  Pinar Bayrak-Toydemir,  Davide Aprile,  Floriana Fruscione,  Federico Zara,  Anna Fassio, 
  • Pages: 3207-3214
  • First Published: 19 August 2016
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FGFR-associated craniosynostosis syndromes and gastrointestinal defects

Christine E. Hibberd,  Sarah Bowdin,  Yamini Arudchelvan,  Christopher R. Forrest,  Katherine A. Brakora,  Ralph S. Marcucio,  Siew-Ging Gong, 
  • Pages: 3215-3221
  • First Published: 02 August 2016

Clinical Reports

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The syndrome dysmorphic facies, renal agenesis, ambiguous genitalia, microcephaly, polydactyly and lissencephaly (DREAM-PL): Report of two additional patients

Ranad Shaheen,  Zakariya Al-Salam,  Ayman W. El-Hattab,  Fowzan S. Alkuraya, 
  • Pages: 3222-3226
  • First Published: 02 August 2016
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Maternal uniparental disomy for chromosome 6 in a patient with IUGR, ambiguous genitalia, and persistent mullerian structures

Joanna Lazier,  Nicole Martin,  James Dimitrios Stavropoulos,  David Chitayat, 
  • Pages: 3227-3230
  • First Published: 08 August 2016
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AUTS2 Syndrome in a 68-year-old female: Natural history and further delineation of the phenotype

Ece Sengun,  Kanay Yararbas,  Serdar Kasakyan,  Yasemin Alanay, 
  • Pages: 3231-3236
  • First Published: 17 August 2016
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11q terminal deletion and combined immunodeficiency (Jacobsen syndrome): Case report and literature review on immunodeficiency in Jacobsen syndrome

Štefan Blazina,  Alojz Ihan,  Luca Lovrečić,  Tinka Hovnik, 
  • Pages: 3237-3240
  • First Published: 08 September 2016
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Evidence for troponin C (TNNC1) as a gene for autosomal recessive restrictive cardiomyopathy with fatal outcome in infancy

Rafal Ploski,  Malgorzata Rydzanicz,  Tomasz M. Ksiazczyk,  Maria Franaszczyk,  Agnieszka Pollak,  Joanna Kosinska,  Ewa Michalak,  Piotr Stawinski,  Lidia Ziolkowska,  Zofia T. Bilinska,  Bozena Werner, 
  • Pages: 3241-3248
  • First Published: 08 September 2016
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Hirschsprung disease as a yet undescribed phenotype in a patient with ARID1B mutation

Toshiki Takenouchi,  Hiroshi Yoshihashi,  Yuri Sakaguchi,  Tomoko Uehara,  Masataka Honda,  Takao Takahashi,  Kenjiro Kosaki,  Sahoko Miyama, 
  • Pages: 3249-3252
  • First Published: 11 August 2016
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Vesicourethral reflux-induced renal failure in a patient with ICF syndrome due to a novel DNMT3B mutation

Seyhan Kutluğ,  Gönül Ogur,  Aysegül Yilmaz,  Peter E. Thijssen,  Ummet Abur,  Alisan Yildiran, 
  • Pages: 3253-3257
  • First Published: 08 September 2016
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Prenatal diagnosis of Simpson–Golabi–Behmel syndrome

Pamela Magini,  Flavia Palombo,  Simona Boito,  Giulia Lanzoni,  Patrizia Mongelli,  Tommaso Rizzuti,  Marco Baccarin,  Tommaso Pippucci,  Marco Seri,  Faustina Lalatta, 
  • Pages: 3258-3264
  • First Published: 09 September 2016
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Further evidence for GRIN2B mutation as the cause of severe epileptic encephalopathy

Robert Smigiel,  Grazyna Kostrzewa,  Joanna Kosinska,  Agnieszka Pollak,  Piotr Stawinski,  Elzbieta Szmida,  Michal Bloch,  Krystyna Szymanska,  Pawel Karpinski,  Maria M. Sasiadek,  Rafal Ploski, 
  • Pages: 3265-3270
  • First Published: 08 September 2016
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Unusual X-chromosome inactivation pattern in patients with Xp11.23-p11.22 duplication: Report and review

Adriana Di-Battista,  Vera Ayres Meloni,  Magnus Dias da Silva,  Mariana Moysés-Oliveira,  Maria Isabel Melaragno, 
  • Pages: 3271-3275
  • First Published: 08 September 2016
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Two cases with de novo 3q26.31 microdeletion suggest a role for FNDC3B in human craniofacial development

Yang Cao,  Elyse B. Mitchell,  Jerome L. Gorski,  Cassandra Hollinger,  Nicole L. Hoppman, 
  • Pages: 3276-3281
  • First Published: 19 August 2016
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An unusual presentation of Kabuki syndrome with orbital cysts, microphthalmia, and cholestasis with bile duct paucity

Nina Bögershausen,  Umut Altunoglu,  Filippo Beleggia,  Gökhan Yigit,  Hülya Kayserili,  Peter Nürnberg,  Yun Li,  Janine Altmüller,  Bernd Wollnik, 
  • Pages: 3282-3288
  • First Published: 17 August 2016
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Hypomorphic MKS1 mutation in a Pakistani family with mild Joubert syndrome and atypical features: Expanding the phenotypic spectrum of MKS1-related ciliopathies

Irfanullah ,  Saadullah Khan,  Imran Ullah,  Abdul Nasir,  C. Arnoud Meijer,  Marlies Laurense-Bik,  Johan T. den Dunnen,  Claudia A. L. Ruivenkamp,  Mariëtte J. V. Hoffer,  Gijs W. E. Santen,  Wasim Ahmad, 
  • Pages: 3289-3293
  • First Published: 29 August 2016
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Tietz/Waardenburg type 2A syndrome associated with posterior microphthalmos in two unrelated patients with novel MITF gene mutations

Vianney Cortés-González,  Juan Carlos Zenteno,  Martín Guzmán-Sánchez,  Verónica Giordano-Herrera,  Dalia Guadarrama-Vallejo,  Narlly Ruíz-Quintero,  Cristina Villanueva-Mendoza, 
  • Pages: 3294-3297
  • First Published: 08 September 2016
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Somatic mosaicism for a lethal TRPV4 mutation results in non-lethal metatropic dysplasia

Michael M. Weinstein,  Taekyu Kang,  Ralph S. Lachman,  Michael Bamshad,  Deborah A. Nickerson,  Deborah Krakow,  Daniel H. Cohn, 
  • Pages: 3298-3302
  • First Published: 17 August 2016
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Diagnostic conundrums in antenatal presentation of a skeletal dysplasia with description of a heterozygous C-propeptide mutation in COL1A1 associated with a severe presentation of osteogenesis imperfecta

Charlotte J. Marshall,  Paul Arundel,  Talat Mushtaq,  Amaka C. Offiah,  Rebecca C. Pollitt,  Nicholas J. Bishop,  Meena Balasubramanian, 
  • Pages: 3303-3307
  • First Published: 23 August 2016
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The importance of chilblains as a diagnostic clue for mild Aicardi–Goutières syndrome

Kevin Yarbrough,  Calida Danko,  Alfons Krol,  Jonathan Zonana,  Sabra Leitenberger, 
  • Pages: 3308-3312
  • First Published: 08 September 2016
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A novel familial autosomal dominant mutation in ARID1B causing neurodevelopmental delays, short stature, and dysmorphic features

Joshua A. Smith,  Kenton R. Holden,  Michael J. Friez,  Julie R. Jones,  Michael J. Lyons, 
  • Pages: 3313-3318
  • First Published: 29 August 2016
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A novel mutation in PIGW causes glycosylphosphatidylinositol deficiency without hyperphosphatasia

Max Hogrebe,  Yoshiko Murakami,  Martin Wild,  Martina Ahlmann,  Saskia Biskup,  Konstanze Hörtnagel,  Marianne Grüneberg,  Janine Reunert,  Tobias Linden,  Taroh Kinoshita,  Thorsten Marquardt, 
  • Pages: 3319-3322
  • First Published: 14 September 2016
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Renal angiomyolipoma in Birt–Hogg–Dube syndrome: A case study supporting overlap with tuberous sclerosis complex

Eryn Dow,  Ingrid Winship, 
  • Pages: 3323-3326
  • First Published: 19 September 2016
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Partially methylated alleles, microdeletion, and tissue mosaicism in a fragile X male with tremor and ataxia at 30 years of age: A case report

Yun Tae Hwang,  Solange Mabel Aliaga,  Marta Arpone,  David Francis,  Xin Li,  Belinda Chong,  Howard Robert Slater,  Carolyn Rogers,  Lesley Bretherton,  Matthew Hunter,  Robert Heard,  David Eugeny Godler, 
  • Pages: 3327-3332
  • First Published: 01 October 2016
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Kabuki syndrome as a cause of non-immune fetal hydrops/ascites

Ashleigh Long,  Elena S. Sinkovskaya,  Andrew C. Edmondson,  Elaine Zackai,  Samantha A. Schrier Vergano, 
  • Pages: 3333-3337
  • First Published: 29 August 2016
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Chromosome 5q33 deletions associated with congenital heart defects

Molly Starkovich,  Seema R. Lalani,  Catherine L. Mercer,  Daryl A. Scott, 
  • Pages: 3338-3342
  • First Published: 02 September 2016
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Neonatal progeriod syndrome associated with biallelic truncating variants in POLR3A

Allison M. Jay,  Robert L. Conway,  Isabelle Thiffault,  Carol Saunders,  Emily Farrow,  John Adams,  Helga V. Toriello, 
  • Pages: 3343-3346
  • First Published: 09 September 2016

Book Review

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The Bedside Dysmorphologist A Guide to Identifying and Assessing Congenital Malformations Second Edition

Theodore E. Wilson M.D., 
  • Page: 3347
  • First Published: 12 September 2016

Research Letters

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Concomitant 11p15.4-p15.5 duplication and terminal 22q13.33 deletion in a patient with features of Beckwith–Wiedemann syndrome

Jess F. Peterson,  David P. Bick,  Gabrielle C. Geddes,  Julie McCarrier,  John W. Grignon Jr,  Brett Chirempes,  Ulrich Broeckel,  Fatima Abidi,  Richard C. Rogers,  Luigi Boccuto,  Barbara DuPont,  Peter vanTuinen, 
  • Pages: 3348-3351
  • First Published: 23 August 2016
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First report of congenital adrenal cysts and pheochromocytoma in a patient with mosaic genome-wide paternal uniparental disomy

Mary White,  George McGillivray,  Sue M. White,  Margaret R. Zacharin, 
  • Pages: 3352-3355
  • First Published: 12 October 2016
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Joint laxity in homozygotes for severe POU1F1 mutations

Hanan E. Shamseldin,  Sateesh Maddirevula,  Amira Nabil,  Saeed Al-Fadhil,  Saeed Al Tala,  Fowzan S. Alkuraya, 
  • Pages: 3356-3358
  • First Published: 19 August 2016
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Detection of gonadal mosaicism in Hartsfield syndrome by next generation sequencing

Yong Shi,  Radhika Dhamija,  Catherine Wren,  Xiangling Wang,  Dusica Babovic-Vuksanovic,  Elaine Spector, 
  • Page: 3359
  • First Published: 08 September 2016
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Somatic-gonadal mosaicism causing Sotos syndrome

Benjamin Kamien,  Tessa Dadd,  Melissa Buckman,  Anne Ronan,  Tracy Dudding,  Cliff Meldrum,  Rodney Scott,  Kym Mina, 
  • Pages: 3360-3362
  • First Published: 08 September 2016

Correspondence

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Typical facial gestalt in X-linked Kabuki syndrome

Henri Margot,  David Geneviève,  Vincent Gatinois,  Benoit Arveiler,  Sébastien Moutton,  Isabelle Touitou,  Didier Lacombe, 
  • Pages: 3363-3364
  • First Published: 02 August 2016
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Correspondence to Hale et al. atypical phenotypes associated with pathogenic CHD7 variants and a proposal for broadening CHARGE syndrome clinical diagnostic criteria

Kim Blake,  Carrie-Lee Trider,  Timothy S. Hartshorne,  Kasee K. Stratton, 
  • Pages: 3365-3366
  • First Published: 14 October 2016
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Response to correspondence to Hale et al. atypical phenotypes associated with pathogenic CHD7 variants and a proposal for broadening CHARGE syndrome clinical diagnostic criteria

Caitlin L. Hale,  Adrienne N. Niederriter,  Glenn E. Green,  Donna M. Martin, 
  • Pages: 3367-3368
  • First Published: 21 March 2016