• Issue

    American Journal of Medical Genetics Part A: Volume 176, Issue 2

    i, 257-504
    February 2018
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COVER IMAGE

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Cover Image, Volume 176A, Number 2, February 2018

Ming Hui Chen,  Sangita Choudhury,  Mami Hirata,  Siri Khalsa,  Bernard Chang,  Christopher A. Walsh, 
  • Page: i
  • First Published: 15 January 2018
Cover Image, Volume 176A, Number 2, February 2018

The cover image, by Ming Hui Chen et al., is based on the Original Article Thoracic Aortic Aneurysm in Patients with Loss of Function Filamin A Mutations: Clinical Characterization, Genetics, and Recommendations, DOI: 10.1002/ajmg.a.38580.

ISSUE INFORMATION

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Table of Contents, Volume 176A, Number 2, February 2018

  • Pages: 257-261
  • First Published: 15 January 2018
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Publication schedule for 2018

  • Page: 262
  • First Published: 15 January 2018

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

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GTEx project maps wide range of normal human genetic variation: A unique catalog and follow-up effort associate variation with gene expression across dozens of body tissues

  • Pages: 263-264
  • First Published: 15 January 2018
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Reanalysis of clinical whole-exome sequence data yields multiple new diagnoses: A time-intensive but successful strategy highlights the benefits of data sharing and international collaborations

  • Pages: 264-265
  • First Published: 15 January 2018
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In this issue

  • Page: 266
  • First Published: 15 January 2018

ORIGINAL ARTICLES

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Associations between laterality of orofacial clefts and medical and academic outcomes

Emily R. Gallagher,  Babette Siebold,  Brent R. Collett,  Timothy C. Cox,  Verena Aziz,  Michael L. Cunningham, 
  • Pages: 267-276
  • First Published: 12 December 2017

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Allometric considerations when assessing aortic aneurysms in Turner syndrome: Implications for activity recommendations and medical decision-making

Holly Corbitt,  Cheryl Maslen,  Siddharth Prakash,  Shaine A. Morris,  Michael Silberbach, 
  • Pages: 277-282
  • First Published: 15 December 2017
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Cognitive and behavioral phenotype of children with pseudohypoparathyroidism type 1A

Katia M. Perez,  Evon B. Lee,  Sachini Kahanda,  Jessica Duis,  Monica Reyes,  Harald Jüppner,  Ashley H. Shoemaker, 
  • Pages: 283-289
  • First Published: 28 November 2017
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Single suture craniosynostosis: Identification of rare variants in genes associated with syndromic forms

Christine M. Clarke,  Vincent T. Fok,  Jennifer A. Gustafson,  Matthew D. Smyth,  Andrew E. Timms,  Chris D. Frazar,  Joshua D. Smith,  Craig B. Birgfeld,  Amy Lee,  Richard G. Ellenbogen,  Joseph S. Gruss,  Richard A. Hopper,  Michael L. Cunningham, 
  • Pages: 290-300
  • First Published: 23 November 2017

Open Access

Intrafamilial variability in the clinical manifestations of mucopolysaccharidosis type II: Data from the Hunter Outcome Survey (HOS)

Can Ficicioglu,  Roberto Giugliani,  Paul Harmatz,  Nancy J. Mendelsohn,  Virginie Jego,  Rossella Parini, 
  • Pages: 301-310
  • First Published: 06 December 2017
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Clinical and genetic characterization of AP4B1-associated SPG47

Darius Ebrahimi-Fakhari,  Chi Cheng,  Kira Dies,  Amelia Diplock,  Danielle B. Pier,  Conor S. Ryan,  Brendan C. Lanpher,  Jennifer Hirst,  Wendy K. Chung,  Mustafa Sahin,  Elisabeth Rosser,  Basil Darras,  James T. Bennett,  on behalf of CureSPG47 , 
  • Pages: 311-318
  • First Published: 28 November 2017
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Incomplete penetrance, variable expressivity, or dosage insensitivity in four families with directly transmitted unbalanced chromosome abnormalities

Mark S. Bateman,  Morag N. Collinson,  David J. Bunyan,  Amanda L. Collins,  Philippa Duncan,  Rachel Firth,  Victoria Harrison,  Tessa Homfray,  Shuwen Huang,  Beth Kirk,  Katherine L. Lachlan,  Viv K. Maloney,  John C. K. Barber, 
  • Pages: 319-329
  • First Published: 01 December 2017
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A novel homozygous SLC25A1 mutation with impaired mitochondrial complex V: Possible phenotypic expansion

Idan Cohen,  Orna Staretz-Chacham,  Ohad Wormser,  Yonatan Perez,  Ann Saada,  Rotem Kadir,  Ohad S. Birk, 
  • Pages: 330-336
  • First Published: 11 December 2017
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Thoracic aortic aneurysm in patients with loss of function Filamin A mutations: Clinical characterization, genetics, and recommendations

Ming Hui Chen,  Sangita Choudhury,  Mami Hirata,  Siri Khalsa,  Bernard Chang,  Christopher A. Walsh, 
  • Pages: 337-350
  • First Published: 15 January 2018
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Manifestation of recessive combined D-2-, L-2-hydroxyglutaric aciduria in combination with 22q11.2 deletion syndrome

Mariko Eguchi,  Erina Ozaki,  Toshifumi Yamauchi,  Masaaki Ohta,  Takashi Higaki,  Kiyoshi Masuda,  Issei Imoto,  Eiichi Ishii,  Minenori Eguchi-Ishimae, 
  • Pages: 351-358
  • First Published: 19 December 2017
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Arthrogryposis and pterygia as lethal end manifestations of genetically defined congenital myopathies

Atif A. Ahmed,  Priya Skaria,  Nicole P. Safina,  Isabelle Thiffault,  Alex Kats,  Eugenio Taboada,  Sultan Habeebu,  Carol Saunders, 
  • Pages: 359-367
  • First Published: 23 December 2017
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Prader–Willi syndrome and early-onset morbid obesity NIH rare disease consortium: A review of natural history study

Merlin G. Butler,  Virginia Kimonis,  Elisabeth Dykens,  June A. Gold,  Jennifer Miller,  Roy Tamura,  Daniel J. Driscoll, 
  • Pages: 368-375
  • First Published: 22 December 2017
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Patient perspectives on the use of categories of conditions for decision making about genomic carrier screening results

Stephanie A. Kraft,  Carmit K. McMullen,  Kathryn M. Porter,  Tia L. Kauffman,  James V. Davis,  Jennifer L. Schneider,  Katrina A. B. Goddard,  Benjamin S. Wilfond, 
  • Pages: 376-385
  • First Published: 18 December 2017

CLINICAL REPORTS

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Spontaneously regressing brain lesions in Smith–Lemli–Opitz syndrome

An N. Dang Do,  Eva H. Baker,  Katherine E. Warren,  Simona E. Bianconi,  Forbes D. Porter, 
  • Pages: 386-390
  • First Published: 11 December 2017
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Clinical and molecular characterization of an emerging chromosome 22q13.31 microdeletion syndrome

Pietro Palumbo,  Maria Accadia,  Maria P. Leone,  Teresa Palladino,  Raffaella Stallone,  Massimo Carella,  Orazio Palumbo, 
  • Pages: 391-398
  • First Published: 28 November 2017
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Riboflavin transporter deficiency mimicking mitochondrial myopathy caused by complex II deficiency

Graeme A. M. Nimmo MD, Msc,  Resham Ejaz MD,  Dawn Cordeiro RN,  Peter Kannu MD, PhD,  Saadet Mercimek-Andrews MD, PhD, 
  • Pages: 399-403
  • First Published: 30 November 2017
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Biallelic mutations in LARS2 can cause Perrault syndrome type 2 with neurologic symptoms

Rika Kosaki,  Reiko Horikawa,  Eriko Fujii,  Kenjiro Kosaki, 
  • Pages: 404-408
  • First Published: 03 December 2017
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Oligonephronia and Wolf-Hirschhorn syndrome: A further observation

Antonio Gatto,  Pietro Ferrara,  Chiara Leoni,  Roberta Onesimo,  Marcella Zollino,  Francesco Emma,  Giuseppe Zampino, 
  • Pages: 409-414
  • First Published: 28 November 2017
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A novel SAMD9 mutation causing MIRAGE syndrome: An expansion and review of phenotype, dysmorphology, and natural history

Lauren Jeffries,  Hirohito Shima,  Weizhen Ji,  David Panisello-Manterola,  James McGrath,  Lynne M. Bird,  Monica Konstantino,  Satoshi Narumi,  Saquib Lakhani, 
  • Pages: 415-420
  • First Published: 21 December 2017
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Novel compound heterozygous mutations in GPT2 linked to microcephaly, and intellectual developmental disability with or without spastic paraplegia

Hande Kaymakcalan,  Yanki Yarman,  Nukte Goc,  Fatih Toy,  Cihan Meral,  A. Gulhan Ercan-Sencicek,  Murat Gunel, 
  • Pages: 421-425
  • First Published: 11 December 2017
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A child with Myhre syndrome presenting with corectopia and tetralogy of Fallot

Marianna Alagia,  Gerarda Cappuccio,  Michele Pinelli,  Annalaura Torella,  Raffaella Brunetti-Pierri,  Francesca Simonelli,  Giuseppe Limongelli,  Guido Oppido,  Vincenzo Nigro,  Nicola Brunetti-Pierri,  TUDP , 
  • Pages: 426-430
  • First Published: 12 December 2017
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Biallelic mutations in NALCN: Expanding the genotypic and phenotypic spectra of IHPRF1

Toshiki Takenouchi,  Mie Inaba,  Tomoko Uehara,  Takao Takahashi,  Kenjiro Kosaki,  Seiji Mizuno, 
  • Pages: 431-437
  • First Published: 23 November 2017
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Expanding the phenotype associated with biallelic WDR60 mutations: Siblings with retinal degeneration and polydactyly lacking other features of short rib thoracic dystrophies

Naseebullah Kakar,  Denise Horn,  Eva Decker,  Nadine Sowada,  Christian Kubisch,  Jamil Ahmad,  Guntram Borck,  Carsten Bergmann, 
  • Pages: 438-442
  • First Published: 22 December 2017
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Small supernumerary marker chromosome 15 and a ring chromosome 15 associated with a 15q26.3 deletion excluding the IGF1R gene

András Szabó,  Márta Czakó,  Kinga Hadzsiev,  Balázs Duga,  Zsolt Bánfai,  Katalin Komlósi,  Béla Melegh, 
  • Pages: 443-449
  • First Published: 11 December 2017
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Severe rhizomelic shortening in a child with a complex duplication/deletion rearrangement of chromosome X

Ashish R. Deshwar,  Lucie Dupuis,  Carsten Bergmann,  James Stavropoulos,  Roberto Mendoza-Londono, 
  • Pages: 450-454
  • First Published: 22 December 2017
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A novel truncating variant within exon 7 of KAT6B associated with features of both Say–Barber–Bieseker–Young–Simpson syndrome and genitopatellar syndrome: Further evidence of a continuum in the clinical spectrum of KAT6B-related disorders

Giuseppe Marangi,  Marilena C. Di Giacomo,  Serena Lattante,  Daniela Orteschi,  Sara Patrizi,  Paolo N. Doronzio,  Francesco N. Riviello,  Alessandro Vaisfeld,  Silvia Frangella,  Marcella Zollino, 
  • Pages: 455-459
  • First Published: 11 December 2017
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“Lowe syndrome: A particularly severe phenotype without clinical kidney involvement”

Ebtesam Abdalla,  Ahmed El-Beheiry,  Klaus Dieterich,  Julien Thevenon,  Julien Fauré,  John Rendu, 
  • Pages: 460-464
  • First Published: 11 December 2017
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The expanding phenotype of RNU4ATAC pathogenic variants to Lowry Wood syndrome

Laura S. Farach,  Mary E. Little,  Angela L. Duker,  Clare V. Logan,  Andrew Jackson,  Jaqueline T. Hecht,  Michael Bober, 
  • Pages: 465-469
  • First Published: 19 December 2017
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The novel RAF1 mutation p.(Gly361Ala) located outside the kinase domain of the CR3 region in two patients with Noonan syndrome, including one with a rare brain tumor

Frederike L. Harms,  Malik Alawi,  David J. Amor,  Tiong Y. Tan,  Goran Cuturilo,  Christina Lissewski,  Julia Brinkmann,  Denny Schanze,  Kerstin Kutsche,  Martin Zenker, 
  • Pages: 470-476
  • First Published: 22 December 2017

RAPID COMMUNICATION

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Elsahy–Waters syndrome is caused by biallelic mutations in CDH11

Frederike L. Harms,  Sheela Nampoothiri,  Shams Anazi,  Dhanya Yesodharan,  Malik Alawi,  Kerstin Kutsche,  Fowzan S. Alkuraya, 
  • Pages: 477-482
  • First Published: 22 December 2017

GENETIC DRIFT

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Genetic diagnosis of Down syndrome in an underserved community

Andrew K. Sobering,  Joshua B. Stevens,  Janice L. Smith,  Beverly Nelson,  Tyhiesia Donald,  Sarah H. Elsea, 
  • Pages: 483-486
  • First Published: 26 December 2017

RESEARCH LETTERS

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Less common underlying genetic diagnoses found in a cohort of 139 individuals surgically corrected for craniosynostosis

Benjamin R. Ittleman MD,  Jasmine Mckissick,  Katherine A. Bosanko,  Eylem Ocal MD,  Michael Golinko MD,  Yuri A. Zarate MD, 
  • Pages: 487-491
  • First Published: 21 November 2017
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Mixoploidy combined with aneuploidy in a 13 year-old patient with severe multiple congenital abnormalities and intellectual disability

Laura J. C. M. van Zutven,  Grazia M. S. Mancini,  Karen G. C. B. Bindels-de Heus,  Erica L. T. van den Akker,  Lorette O. M. Hulsman,  Marjan Smit,  H. Berna Beverloo, 
  • Pages: 492-495
  • First Published: 11 December 2017
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Spontaneous intramural duodenal hematoma as the manifestation of Noonan syndrome

Kazuki Yamazawa,  Yohei Yamada,  Tatsuo Kuroda,  Hideki Mutai,  Tatsuo Matsunaga,  Osamu Komiyama,  Takao Takahashi, 
  • Pages: 496-498
  • First Published: 11 December 2017

LETTER TO THE EDITOR

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Autopsy findings in EPG5-related Vici syndrome with antenatal onset: Additional report of Focal cortical microdysgenesis in a second trimester fetus

Shagun Aggarwal,  Ashwani Tandon,  Aneek Das Bhowmik,  Ashwin Dalal, 
  • Pages: 499-501
  • First Published: 11 December 2017

CORRESPONDENCE

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VACTERL phenotype with mosaic trisomy 5 and uniparental disomy 5

Samuel Hwang,  Mary Katharine Rudd,  Lisa Finch,  Suzanne E. Peterson,  Raj P. Kapur, 
  • Pages: 502-504
  • First Published: 18 December 2017